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Diseases » Blood conditions » Glossary
 

Glossary for Blood conditions

  • ADP platelet receptor P2Y12, deficiency of: Deficiency of a compound (P2Y12) involved in the blood clotting process which results in bleeding problems.
  • ALL-Down syndrome: The presence of acute lymphoblastic leukemia in Down syndrome patients. These patients tend to have a poorer prognosis for the leukemia than patients without Down syndrome.
  • ATR-X syndrome: A rare X-linked disorder that affects males and is characterized by mental retardation and alpha thalassemia.
  • ATR16: A rare disorder characterized by alpha thalassemia and mental retardation.
  • ATRUS syndrome: A rare syndrome characterized by fusion of the forearm bones near the elbow and a blood disorder.
  • Aantibodies anti-FVIIIc syndrome: A rare, acquired blood condition where the body develops antibodies against a blood clotting factor (FVIII) which results in bleeding problems.
  • Aarau dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Aarau type was discovered in Aarau.
  • Aarhus dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Aarhus type was discovered in Aarhus.
  • Aase Smith syndrome: A rare hereditary syndrome characterized by deformities such as cleft palate, joint contractures and hypoplastic anemia.
  • Aase Syndrome: A genetic condition which results in anaemia and some skeletal and joint deformities
  • Aase syndrome 2: A rare genetic disorder characterized by blood abnormalities and thumb structure defects.
  • Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
  • Abetalipoproteinemia: A rare disorder involving abnormalities in fat metabolism. The resulting insufficiency of fats and vitamins affect the normal development and function of the body.
  • Absent T lymphocytes: Reduced level of circulating T lymphocytes which are involved in the body's immune system. It is not associated with HIV infection or any other detectable immunodeficiency disease.
  • Abuelo Forman Rubin Syndrome: A rare condition where a blood disorder called alpha-thalassemia is associated with hand and foot defects and genital abnormalities.
  • Acanthocytosis: A rare disorder where most of the red blood cells are abnormal with spiny projections due to lipid abnormalities. The blood abnormality is seen in conditions such as abetalipoproteinemia, severe liver disease and severe malnutrition. Symptoms and prognosis depend on the underlying disorder.
  • Acatalasemia: A rare inherited disorder involving a lack of erythrocyte catalase activity which affects lipid metabolism. The defect can manifest as one of two variants: Japanese variant (Takahara disease) or the Swiss variant which is asymptomatic.
  • Achrestic anemia: Achrestic anemia is a form of anemia similar to that caused by Vitamin B12 deficiency but it doesn't respond to treatment with Vitamin B12. The condition tends to progress slowly and can result in death if not treated. There are a variety of possible causes.
  • Acid phosphatase elevation: It is a type of enzyme, used to free attached phosphate groups from other molecules during digestion.Different forms of acid phosphatase are found in different organs, and their serum levels are used as a diagnostic for disease in the corresponding organs.
  • Acid-Base Imbalance: A disruption to the normal acid-base equilibrium in the body. There are four main groups of disorder involving an acid-base imbalance: respiratory acidosis or alkalosis and metabolic acidosis or alkalosis. Obviously the severity of symptoms is determined by the degree of imbalance.
  • Acidemia, isovaleric: A rare genetic condition where the body can't process proteins adequately. More specifically, there are insufficient levels of the enzyme needed to break down an amino acid called leucine. This results in a build up of isovaleric acid which can harm the brain and nervous system. Some people suffer severe symptoms from birth and others suffer milder symptoms that come and go and are affected by such things as infections or consumption of high protein food.
  • Acidemia, methylmalonic: An inborn error of metabolism where amino acids in the body aren't metabolized properly resulting in high levels of the acid throughout the body.
  • Acidemia, propionic: An inherited genetic disorder where the body is incapable of processing some proteins and fats resulting in the accumulation of certain substances in the body which causes the symptoms of the condition. The condition can be life threatening.
  • Acidosis: Excess acidic toxins or waste products in the blood
  • Acquired Aplastic Anemia: A rare disorder involving severe failure of the bone marrow to produce new blood cells. Acquired aplastic anemia means that the condition was not present at birth but developed during the persons lifetime. The condition may be caused by such things as autoimmune reactions, radiation and certain drugs, chemicals or viral infections.
  • Acquired Pure Red Cell Aplasia: An acquired condition which affects the formation of red blood cells and only red blood cells
  • Acquired agranulocytosis: A blood disorder characterized by low levels of white blood cells (granular leukocytes) in the circulating blood. The condition is usually caused by certain drugs especially chemotherapy drugs.
  • Acquired amegakaryocytic thrombocytopenia: A rare blood disorder characterized by a deficiency of blood platelets required for normal blood clotting. Autoimmune processes can be a cause of the acquired form of this condition.
  • Acquired hypoprothrombinemia: A low level of blood prothrombins which is not inherited but occurs as a result of certain medical disorders such as Vitamin K deficiency.
  • Acquired idiopathic sideroblastic anaemia: A rare disorder where iron is transported into a developing blood cells but because it is unable to be used, it builds up within the cell and tends to stop it from developing into a fully functioning red blood cell. Thus anemia can occur despite adequate or even high iron levels. Acquired cases can occur on exposure to excess alcohol, lead and drugs or can occur to nutritional problems involving a deficiency of folic acid or copper or an excess of zinc. The condition can also be caused by conditions such as kidney problems, endocrine dysfunction, metabolic disorders, rheumatoid arthritis and leukemia.
  • Acquired prothrombin deficiency: A deficiency of prothrombin (vital for blood clotting) which is acquired through other conditions such as liver disease, anticoagulant drugs or vitamin K deficiency. The severity of symptoms is determined by the degree of deficiency.
  • Acquired pure megakaryocytic aplasia: A rare blood disorder characterized by severe thrombocytopenia (reduced blood platelets) or reduced megakaryocytes (bone marrow cells that produce blood platelets). The disorder may be caused by immune processes inhibiting the development of megakaryocytes.
  • Acral dysostosis -- dyserythropoiesis: A rare disorder characterized by hand and foot defects as well as a congenital form of anemia characterized by the production of abnormal red blood cells.
  • Acute adult T-Cell leukemia: A form of blood cancer affecting the T-cells which make up the body's immune system. The disease is caused by the HTLV-1 virus (human T-cell leukemia virus) which causes the proliferation of abnormal T-cells. The virus can be transmitted sexually and may lay dormant for decades. There are four subtypes: acute, chronic, lymphoma and smoldering. The acute and lymphoma subtypes have the poorest prognosis. The acute subtype tends to progress rapidly and is the most prevalent form of the condition.
  • Acute basophilic leukaemia: A rare type of acute myeloid leukemia characterized by the presence of abnormal basophils.
  • Acute biphenotypic leukemia: A rare form of leukemia that has myeloid and lymphoid features.
  • Acute cholinergic dysautonomia: A rare condition characterized by the presence of abnormal red blood cells in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form has more severe symptoms than the chronic form.
  • Acute erythroleukemia: A rare condition characterized by the presence of abnormal blood cells (erythroblastic precursors) in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form has more severe symptoms than the chronic form.
  • Acute leukaemia of ambiguous lineage: A term used to describe a type of leukemia (a blood cancer) where the leukemic cells cannot be determined as myeloid or lymphoid or where both types of cells are present.
  • Acute leukemia: An acute condition which affects a cell line of the blood which shows little or no differentiation
  • Acute lymphoblastic leukemia: Cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets.
  • Acute lymphoblastic leukemia congenital sporadic aniridia: The rare association with a form of acute leukemia and congenital aniridia observed in a patient.
  • Acute lymphoblastic leukemia, Susceptibility to: Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are two subtypes of leukemia linked to a genetic anomaly which increases a person's susceptibility to developing the cancer. Type 1 is linked to a defect on chromosome 10q21 and type 2 is linked to a defect on chromosome 7p12.2.
  • Acute lymphoblastic leukemia, Susceptibility to, 1: Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are two subtypes of leukemia linked to a genetic anomaly which increases a person's susceptibility to developing the cancer. Type 1 is linked to a defect on chromosome 10q21.
  • Acute lymphoblastic leukemia, Susceptibility to, 2: Cancer of the white blood cells characterized by the presence of excessive lymphoblasts. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets. There are two subtypes of leukemia linked to a genetic anomaly which increases a person's susceptibility to developing the cancer. Type 2 is linked to a defect on chromosome 7p12.2.
  • Acute lymphoblastic leukemia, adult: Cancer of the white blood cells. Precursors to white blood cells are called blasts and are made by the bone marrow but in ALL the blasts are abnormal and do not develop into lymphocytes. Instead, the abnormal blasts or leukemic cells multiply rapidly and reduce the level of other types of blood cells such as red blood cells and platelets.
  • Acute lymphocytic leukemia: Most common child form of leukemia; can also affect adults especially over 65.
  • Acute megacaryoblastic leukemia: A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of blood cells. More specifically, it involves the rapid proliferation of megakaryoblasts (premature form of megakaryocytes).
  • Acute myeloblastic leukemia type 1: A form of blood cancer resulting in the rapid proliferation of immature blood cells (blast cells).
  • Acute myeloblastic leukemia type 2: A form of blood cancer resulting in the rapid proliferation of granulocytes and monocytes.
  • Acute myeloblastic leukemia type 3: A rare form of malignant bone marrow cancer involving the rapid proliferation of immature precursors of blood cells. Type 3 involves the proliferation of promyelocytes.
  • Acute myeloblastic leukemia type 4: A rare form of malignant bone marrow cancer involving the rapid proliferation of immature precursors of blood cells. Type 4 involves the rapid proliferation of myelocytes and monocytes.
  • Acute myeloblastic leukemia type 5: A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of blood cells. Type 5 involves the rapid proliferation of monoblasts (immature precursors of monocytes) in particular.
  • Acute myeloblastic leukemia type 6: A rare form of malignant bone marrow cancer involving the rapid proliferation of immature precursors of blood cells. Type 6 involves the proliferation of the immature precursors of red blood cells called erythroblasts.
  • Acute myeloblastic leukemia type 7: A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of blood cells. Type 7 involves the rapid proliferation of megakaryoblasts (premature form of megakaryocytes) in particular.
  • Acute myelocytic leukemia: A cancer of the blood-forming tissues of the bone marrow involving the proliferation of cells that normally develop into infection-fighting cells such as eosinophils, monocytes, basophils and neutrophils. The cancerous cells replace the normal bone marrow cells. Acute leukemia involves a more rapid proliferation of cancer cells compared to chronic forms of leukemia.
  • Acute myelofibrosis: A rare condition where progressive scarring or fibrosis of the bone marrow impairs it's ability to make blood cells causing symptoms such as anemia and liver and spleen enlargement.
  • Acute myeloid leukaemia and myelodysplastic syndromes related to alkylating agent: The use of alkylating agents to treat cancer can result in leukemia in some patients.
  • Acute myeloid leukaemia and myelodysplastic syndromes related to topoisomerase type II inhibitor: The use of topoisomerase type II inhibitors to treat cancer can result in leukemia in some patients.
  • Acute myeloid leukaemia and myelodysplastic syndromes, therapy related: Certain cancer therapies can result in the development of leukemia in some patients. These therapies includes topoisomerase type II inhibitors and alkylating agents.
  • Acute myeloid leukemia: A form of rapidly progressing blood cancer resulting in the rapid proliferation of granulocytes and monocytes, red blood cells and platelets.
  • Acute myeloid leukemia, adult: A form of blood cancer resulting in the rapid proliferation of granulocytes and monocytes, red blood cells and platelets.
  • Acute myelosclerosis: A rare disorder where the bone marrow makes too many blood cells. The disease progresses rapidly with death usually occurring within 6 months of onset.
  • Acute non lymphoblastic leukemia: A form of rapidly progressing blood cancer resulting in the rapid proliferation of granulocytes and monocytes, red blood cells and platelets. It is one of the most common forms of leukemia in adults but can occur in children.
  • Acute panmyelosis: A rare condition where progressive scarring or fibrosis of the bone marrow impairs it's ability to make blood cells causing symptoms such as anemia and liver and spleen enlargement. The disease often progresses rapidly and results in death.
  • Acute panmyelosis with myelofibrosis: A poorly defined condition which is more a description of a particular state rather than a distinct disorder. The condition involves the presence of panmyelosis and myelofibrosis. Bone marrow exposure to toxic substances is one cause of the condition.
  • Acute promyelocytic leukemia: A rare bone marrow cancer characterized by a lack of mature blood cells and excessive amounts of immature blood cells (promyelocytes).
  • Adelaide I dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Aarau type was discovered in Aarau.
  • Adenosine deaminase, elevated, hemolytic anemia due to: A rare inherited disorder where there is a high level of an enzyme called adenosine deaminase in red blood cells. The high level of this enzyme results in premature destruction of red blood cells which ultimately leads to anemia. The severity of the anemia is determined by the level of excessive enzyme activity.
  • Adenosine triphosphatase deficiency, anaemia due to: Deficiency of a chemical (adenosine triphosphate) resulting in anemia.
  • Adenosine triphosphatase deficiency, anemia due to: A rare metabolic disorder where anemia is caused by a deficiency of the enzyme called adenosine triphosphatase.
  • Adenylate Kinase Deficiency: A rare genetic anomaly sometimes associated with hemolytic anemia.
  • Adult T-Cell leukemia: A form of blood cancer affecting the T-cells which make up the body's immune system. The disease is caused by the HTLV-1 virus (human T-cell leukemia virus) which causes the proliferation of abnormal T-cells. The virus can be transmitted sexually and may lay dormant for decades. There are four subtypes: acute, chronic, lymphoma and smoldering. The acute and lymphoma subtypes have the poorest prognosis.
  • Adult T-cell leukemia/lymphoma: Rare cancer of the immune system T-cells.
  • Agammaglobulinemia: A rare genetic disorder, which inhibits the normal growth of B cells and results in immunoglobulin deficiency.
  • Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agammaglobulinemia, X-linked, type 2: An immune system disorder involving a lack of mature B lymphocytes. The disorder occurs as a result of a defect on chromosome Xp22. Only males are symptomatic.
  • Agammaglobulinemia, alymphocytotic type: A rare inherited immunodeficiency disorder involving a lack of T and B lymphocytes which makes the patient susceptible to bacterial and viral infections.
  • Agammaglobulinemia, autosomal recessive: A rare recessively inherited immune system disorder involving a lack of mature B lymphocytes.
  • Agammaglobulinemia, microcephaly, and severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agammaglobulinemia, non-Bruton type: An inherited immune system disorder involving a lack of mature B lymphocyte.
  • Agammaglobulinemias, Primary: A group of inherited conditions characterized by a defective immune system.
  • Aggressive NK-cell leukaemia: An aggressive form of blood cancer involving the rapid proliferation of natural killer (NK) cells.
  • Agranulocytosis: Total lack of granulocytes in the blood
  • Alba/Geneva I dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Alba/Geneva I type was discovered in Alba/Geneva I.
  • Ales dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Alès type was discovered in Alès.
  • Aleukemic leukemia cutis: A rare form of leukemia where the skin is involved before the leukemic cells appear in the blood. It is usually an early sign of leukemia.
  • Alkaline phosphatase elevation: Alkaline phosphatase is present in all tissues throughout the entire body, but is particularly concentrated in liver, bile duct, kidney, bone, and the placenta. The normal range is 39-120. High ALP levels can show that the bile ducts are blocked. Levels are significantly higher in children and pregnant women.
  • Alkalosis: Blood alkalinity levels too high (opposite of acidosis)
  • All Disease Categories: All major disease categories
  • Almeria I dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Alméria I type was discovered in Alméria I.
  • Alpha thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia involves defects in one or more of the four genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Alpha thalassemia -- Hemoglobin H disease: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Hemoglobin H disease involves defects in three of the four genes required to make each ? protein chain. The main symptom is moderate to severe anemia.
  • Alpha thalassemia -- silent carrier: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia silent carrier involves defects in one of the four genes required to make each ? protein chain. The patients will have no symptoms but if they have children with a partner who carries thalassemia genes then the condition may be passed on to the offspring.
  • Alpha thalassemia major: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia major is very rare involves defects in all of the four genes required to make each ? protein chain. The condition leads to infant death before or soon after birth.
  • Alpha thalassemia trait: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia trait involves defects in two of the four genes required to make each ? protein chain. The main symptom is mild anemia which may go unnoticed in many people.
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Alport syndrome -- mental retardation -- midface hypoplasia -- elliptocytosis: A rare syndrome characterized by the association of Alport syndrome, mental retardation, underdeveloped midface and a blood abnormality (elliptocytosis). Alport syndrome is an inherited condition involving progressive kidney damage and hearing loss.
  • Alport syndrome with leukocyte inclusions and macrothrombocytopenia: A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes. End-stage kidney disease occurs in about a third of patients and tends to occur during the 3rd and 4th decades of life.
  • Alport syndrome with macrothrombocytopenia: A rare inherited syndrome characterized by progressive kidney damage and hearing loss as well as macrothrombocytopenia.
  • Amegakaryocytic thrombocytopenia: A blood disorder involving a deficiency of blood platelets required for normal blood clotting. The disorder may be present at birth (congenital) or acquired (e.g. autoimmune disorders).
  • Amiens I dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Amiens I type was discovered in Amiens I.
  • Amsterdam dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Amsterdam type was discovered in Amsterdam.
  • Amyloidosis: A rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage and is potentially fatal. Symptoms depend on the organs involved. There are numerous forms of the condition: primary amyloidosis, secondary amyloidosis, hemodialysis-associated amyloidosis and familial amyloidosis.
  • Anaemia due to pyrimidine 5' nucleotidase deficiency: A rare inherited disorder where a deficiency of a particular enzyme (pryimidine 5' nucleotidase) causes hemolytic anemia. The anemia is usually mild.
  • Anaemia, sideroblastic, X-linked -- ataxia: A very rare inherited disorder characterized by mild anemia and early onset neurological motor symptoms. The neurological symptoms tend to be relatively stable or slowly progressive with only occasional dependence on crutches or wheelchairs.
  • Anemia: Reduced ability of blood to carry oxygen from various possible causes.
  • Anemia of pregnancy: Anemia of pregnancy is anemia that occurs during pregnancy. Women's bodies have a greater demand for iron during pregnancy and if intake is not sufficient, anemia can result. Anemia in pregnant women can lead to infant problems such as premature birth, fetal death, retarded growth and other problems.
  • Anemia, Blackfan Diamond: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
  • Anemia, Hemolytic, Warm Antibody: A rare autoimmune condition where the body's defense system attacks and destroys red blood cells. The onset of the condition is triggered by temperatures 37ºC or higher. The severity of the disorder is variable.
  • Anemia, Iron-Deficiency: A lack of fully functioning red blood cells due to a deficiency of iron. The iron allows the body to make hemoglobin in red blood cells which in turn allows the red blood cell to carry oxygen.
  • Anemia, Neonatal: Insufficient red blood cells that can carry oxygen around the body. It is common in premature births or can occur as a result of blood loss before, during or just after the birth.
  • Anemia, Refractory, with Excess of Blasts: A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. There are two types: type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a quarter of cases in type 1 and a third of cases in type 2.
  • Anemia, Refractory, with Excess of Blasts, type 1: A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. Type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a quarter of cases in type 1.
  • Anemia, Refractory, with Excess of Blasts, type 2: A bone marrow disease which results in insufficient red blood cells in the blood (anemia). The prognosis is poor with death usually occurring within a couple of years. Type 1 refers to cases where the level of blasts is less than 10% and type 2 refers to cases where the level of blasts is 10-20%. When too many immature blood cells (blasts) are produced by the bone marrow, the condition may progress to acute myeloid leukemia - occurs in about a third of cases in type 2.
  • Anemia, Sideroblastic: A rare blood disorder where abnormal utilization of iron results in the production of defective red blood cells which have excessive deposits of iron in them.
  • Anemia, hypochromic microcytic: A blood disorder where red blood cells are too small and lack sufficient iron. It can be inherited or caused by insufficient iron in the diet or from a genetic disorder.
  • Anemia, sideroblastic spinocerebellar ataxia: A rare inherited condition characterized by anemia at birth as well as spinocerebellar ataxia (impaired ability to control voluntary movements).
  • Anemias, Sideroblastic: Sideroblastic anemias are a group of rare blood disorders where the bone marrow is unable to produce normal red blood cells. The body has enough iron but the red blood cells are unable to utilize it in a normal manner and anemia results. The red blood cells become overloaded with iron and are unable to carry out their normal functions. Some forms of sideroblastic anemia are inherited but most tend to be acquired due to such things as exposure to toxins and certain drugs, leukemia, inflammatory conditions such as rheumatoid arthritis and nutritional deficiencies (e.g. copper and pyridoxine deficiency). Inherited forms usually appear in childhood whereas acquired forms usually occur in adulthood.
  • Anemic -- hematuria syndrome: An epidemic disease in Argentina which has a prolonged recovery time but usually there are no complications. Symptoms vary between seasons so that affected patients suffer anorexia, vomiting, diarrhea and dehydration in summer but suffer reduced urination, excess blood, albumin and renal casts in the urine. Other symptoms occur irrespective of the season.
  • Angioimmunoblastic with dysproteinemia lymphadenopathy: A rare immune system disorder which is similar to lymphoma. The condition is progressive but the course varies with some patients surviving a long time without treatment and others surviving only a short period of time.
  • Anisocytosis: Variation in red blood cell size, commonly seen in anaemia
  • Anoxemia: Lack of oxygen in the blood
  • Anticoagulant poisoning: Excessive ingestion of anticoagulant drugs.
  • Antithrombin Deficiency: Antithrombin deficiency refers the deficiency or impaired activity of a substance that inactivates enzymes involved in blood coagulation. Antithrombin prevents the blood from clotting too readily and if its activity is impaired then the blood becomes more prone to clotting which can result in severe problems. Severity of the condition can vary amongst patients and the symptoms can vary considerably depending on the location of blood clots and size of the blood clot.
  • Antithrombin Deficiency, type I: Type I Antithrombin deficiency refers the deficiency of a substance that inactivates enzymes involved in blood coagulation. Antithrombin prevents the blood from clotting too readily and if there are insufficient quantities of it then the blood becomes more prone to clotting which can result in severe problems. Severity of the condition can vary amongst patients and the symptoms can vary considerably depending on the location of blood clots and size of the blood clot. Type I may be inherited or acquired through such things as kidney or liver disease. Acquired cases tend to have a lower risk of blood clots compared to inherited cases.
  • Antithrombin Deficiency, type II: Type II Antithrombin deficiency refers the malfunction of a substance that inactivates enzymes involved in blood coagulation. Antithrombin prevents the blood from clotting too readily and if it is unable to function properly then the blood becomes more prone to clotting which can result in severe problems. Severity of the condition can vary amongst patients and the symptoms can vary considerably depending on the location of blood clots and size of the blood clot. Type II is an inherited condition.
  • Antithrombin III deficiency, congenital: A rare blood disorder where a congenital deficiency of antithrombin III causes excessive blood coagulation which results in blood clot formation.
  • Aplastic anemia: A blood disorder where the bone marrow produces insufficient new blood cells.
  • Aplastic anemia -- paroxysmal nocturnal hemoglobinuria syndrome: The association of hemoglobin in the urine with aplastic anemia. The hemoglobin in the urine manifests as dark urine in the morning. This is usually only observed in the morning as the urine is concentrated while sleeping which makes the presence of the hemoglobin more pronounced. Usually the condition leads to acute leukemia.
  • Arakawa's syndrome 2: An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms.
  • Arcobacter butzleri infection: A bacterial infection that involves bacteria from the Arcobacter genus. It tends to cause gastrointestinal symptoms but may also cause blood infections. The bacteria tends to originate in pigs, cattle, sheep and water.
  • Arcobacter cryaerophilus infection: A bacterial infection that involves bacteria from the Arcobacter genus. It tends to cause gastrointestinal symptoms but may also cause blood infections. The bacteria tends to originate in pigs, cattle, sheep and water.
  • Arcobacter infection: A bacterial infection that involves bacteria from the Arcobacter genus. It tends to cause gastrointestinal symptoms but may also cause blood infections. The bacteria tends to originate in pigs, cattle, sheep and water.
  • Arthralgia -- purpura -- weakness syndrome: A rare autoimmune disorder characterized mainly by weakness, joint pain, reddish or purplish skin discolorations and a blood abnormality where cryoglobulins in the blood precipitate at low temperatures.
  • Asahi I dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Asahi I type was discovered in Asahi I.
  • Asrar-Facharzt-Haque syndrome: A form of sinus histiocytosis characterized by lymphadenopathy as well as involvement of other tissues such as the sinus cavity, skin, lungs, bone, eyes, kidneys, testes, head and neck area and the central nervous system. Symptoms vary according to the organ involved. The condition usually runs a prolonged course with spontaneous remission occurring in some cases. Rare cases may be fatal.
  • Atransferrinemia: A rare inherited condition characterized by the absence of a compound called transferring which results in a buildup of iron in the body's tissues as well as anemia.
  • Atypical hemolytic uremic syndrome: A rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure that has no obvious cause.
  • Autoimmune Hemolytic Anemia: Autoimmune hemolytic anemia is characterized by an abnormal immune system response which leads to the destruction of red blood cells and hence anemia. The severity of the condition varies depending on the underlying cause e.g. cytomegalovirus, hepatitis, HIV and lupus. The condition may develop gradually or occur suddenly and cause serious symptoms.
  • Autoimmune Hemophilia: Hemophilia caused by an autoimmune reaction
  • Autoimmune Lymphoproliferative Syndrome: An inherited autoimmune condition characterized by proliferation of lymphocytes and autoimmunity against the body's own blood cells resulting in premature death of certain blood cells.
  • Autoimmune Thrombocytopenia: Autoimmune disorder causing a lack of blood platelets.
  • Avascular necrosis: Bone death from lack of circulation.
  • B-cell chronic lymphocytic leukemia: A slow progressing disease involving cancerous B-cell lymphocytes which take over the healthy cells in the lymph nodes. B-cells help the body to fight infections so when the disease becomes more advanced, the body is less able to fight infection as there are fewer healthy, functioning B-cells.
  • B-cell prolymphocytic leukaemia: A rare type of leukemia involving a proliferation of immature white blood cells (prolymphocytes - B-cells).
  • Baber's syndrome: A very rare syndrome characterized by the association of congenital liver cirrhosis with Fanconi syndrome.
  • Bacteremia: A condition where there is the presence of bacteria in the blood
  • Bacterial septicemia: Sepsis of the bloodstream caused by bacteraemia.
  • Balance disorders: Various disorders impairing the body's sense of balance.
  • Baltimore dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Baltimore type was discovered in Baltimore.
  • Bamberger albuminuria (obsolete term): High albumin levels in the urine that occurs in the advanced stages of severe anemia.
  • Banti Syndrome: A rare conditions where chronic congestive spleen enlargement causes it to destroy red blood cells too early. The spleen becomes enlarged due to an obstruction of blood flow in the organ and the resulting increase in blood pressure.
  • Banti's syndrome: A rare condition where chronic congestive spleen enlargement causes it to destroy red blood cells too early. The spleen becomes enlarged due to an obstruction of blood flow in the organ and the resulting increase in blood pressure.
  • Benjamin syndrome: A rare disorder characterized mainly by anemia, bone abnormalities and mental and growth retardation.
  • Bernard syndrome: A familial condition characterized by acute anemia, jaundice, hemoglobinuria and destruction of red blood cells. Acute symptoms may follow an episode of fever, abdominal pain, vomiting, malaise and joint pain.
  • Bernard-Soulier Syndrome: A rare inherited blood coagulation disorder caused by blood platelet abnormalities which results in easy bruising and excessive bleeding.
  • Beta Thalassemia intermedia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia intermedia involves defects in both of the two genes required to make each ? protein chain. The condition causes varying degrees of moderate anemia.
  • Beta Thalassemia trait: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia trait involves defects in one of the two genes required to make each ? protein chain. Mild anemia is usually the only symptom.
  • Beta thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Beta thalassemia involves defects in one or more of the two genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
  • Bethesda I dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Bethesda I type was discovered in Bethesda.
  • Bethesda II dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Bethesda II type was discovered in Bethesda.
  • Bicarbonate deficit: A condition caused by excessive organic or inorganic acids in the body. The excess may be due to abnormally high acid production such as occurs during fever and starvation or may occur as a result of excessive acid intake, acid retention or loss of bases.
  • Bing-Neel syndrome: A rare disorder involving infiltration of the central nervous system by abnormal leukemia-like cells (lymphoplasmocytoid cells) that occur in Waldenström's macroglobulinemia. The abnormality increases blood viscosity which impairs its circulation through small brain and eye blood vessels.
  • Bisalbuminemia: Bisalbuminemia is the presence of an additional type of serum albumin. The condition is asymptomatic and may be inherited or acquired.
  • Bisalbuminemia, acquired: Bisalbuminemia is the presence of an additional type of serum albumin. The condition is asymptomatic. The acquired form can be caused by an overdose of beta-lactam antibiotics or with pancreatic pseudocyst.
  • Bisalbuminemia, inherited: An inherited trait involving the presence of an additional type of serum albumin. The condition is asymptomatic.
  • Blast crisis: The final phase of chronic myeloid leukemia which has a high mortality rate. Myeloid leukemia is a form of cancer where the bone marrow makes too many myeloid cells (granulocytes and their precursors) in the bone marrow which accumulates in the blood and eventually invades various parts of the body. The three phases of the condition are the chronic phase, aggressive phase and finally the blast crisis. A blast crisis is occurs when over 30% of the cells in the blood or bone marrow are immature blood cells (blast cells). Patients in the final stage of leukemia are more prone to relapses following treatment.
  • Bleeding disorders: Any disorder leading to bleeding or bruising.
  • Blood cancer: Malignancy of one or several of the different types of cells in the blood
  • Blood coagulation disorders, inherited: Inherited blood disorders where the ability to form clots is dysfunctional. The blood needs to be able to clot to prevent excessive bleeding in situations such as when the body suffers some sort of injury. With blood coagulation disorders, the blood's ability to clot may be impaired, resulting in excessive bleeding, or the blood may form clots too readily and result in thrombosis.
  • Blood vessel conditions: Conditions that affect the blood vessels
  • Blue and bloated syndrome: Heart and breathing problems that occur in obese patients that can cause reduced blood oxygenation especially while sleeping.
  • Blueberry muffin syndrome: A manifestation of fetal rubella infection. The newborn has purplish or bluish skin lesions or bumps as well as thrombocytopenia. The skin usually clears within 6 weeks.
  • Blum's syndrome: A syndrome characterized by low blood sodium levels and increased blood urea levels that is not due to kidney problems.
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency: A rare inherited connective tissue disorder caused by a deficiency of a blood coagulation factor.
  • Bone-Marrow failure syndromes: A disorder where the bone marrow fails to produce enough new blood cells.
  • Breast Milk Jaundice: Jaundice in an infant caused by the presence of a particular substance in the mother's breast milk which leads to high bilirubin levels in the infant. The condition tends to run in families. The jaundice tends to persist up to six weeks after birth.
  • CML-Like Syndrome, Familial: A very rare condition characterized by symptom similar to myelocytic leukemia that develop during infancy. The condition can result in death during the first years of life.
  • Calcification of basal ganglia with or without hypocalcemia: Calcification of a part of the brain called the basal ganglia. That calcification may be associated with conditions such as hypothyroidism, cytomegalovirus, and AIDS or may occur for no apparent reason. The severity of the condition may vary greatly from asymptomatic to neurological, psychiatric and movement disorders. The disorder may also progress at variable rates or remain stable depending on the underlying disease process.
  • Capillary leak syndrome with monoclonal gammopathy: A rare condition characterized by leaky blood vessels and an increased level of certain blood proteins (monoclonal gammopathy). Monoclonal gammopathy itself does not cause any symptoms unless it develops into plasma cell leukemia. The condition may vary from mild to severe enough to cause death.
  • Cardiomyopathy -- spherocytosis: A rare disorder characterized by the association of spherocytosis with heart muscle disease. Spherocytosis is a red blood cell disorder where the red blood cells have abnormal membranes which gives them a spherical shape and makes them weak resulting in their premature death.
  • Carnosinemia: Excessive amounts of carnisine in the blood.
  • Carotenemia: Excessive beta-carotene in the blood causing orange skin
  • Carotenemia, familial: A rare inherited metabolic disorder where an enzyme deficiency inhibits the conversion of beta carotene into vitamin A. Thus, patients have high beta carotene levels in the blood and low vitamin A levels. The condition causes intermittent orange discoloration of the face, palms and soles. Vitamin A supplements are of no benefit for this condition.
  • Catastrophic Antiphospholipid Syndrome: A very rare disorder where the blood clotting system becomes dysfunctional and clots too easily due to the abnormal presence of antphospholipid antibodies. It results in blood flow blockages to various body organs. It is possible that the condition has autoimmune origins. The disorder is often triggered by infections, certain drugs (e.g. anticoagulants), minor surgery and hysterectomy.
  • Cephalosporin-induced Immune Hemolytic Anemia: Cephalosporin-induced immune hemolytic anemia is a condition where a use of a medication called Cephalosporin triggers the body's immune system to destroy it's own red blood cells which results in anemia.
  • Cerebral hemorrhage with amyloidosis, hereditary, Dutch type: An inherited condition characterized mainly by brain hemorrhage and amyloid deposits in the brain blood vessels. The size and location of the hemorrhage determines the severity of symptoms. The condition was first described in a Dutch family.
  • Cerebrovascular accident: Occurs when the blood supply to the brain is interrupted and results in cell injury and death.
  • Chediak-Higashi Syndrome: An inherited immune system disorder characterized by reduced pigmentation, recurrent infection and neurological disorders.
  • Chemical poisoning -- Jet Fuel-8: Jet Fuel-8 is an aviation turbine fuel used by the US military. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning -- Lead-containing Paint: Lead pain contains lead as well as other harmful chemicals. The lead in the pain is toxic (especially to young children) and ingesting fresh or old paint can cause serious symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chloramphenicol-induced Sideroblastic anemia: Chloramphenicol-induced sideroblastic anemia is a blood disorder caused by taking a drug called chloramphenicol. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blood cells which make them unable to function properly.
  • Chloromyeloma: A rare type of tumor that develops from myeloid cells (type of immature white blood cell) and tends to usually have a greenish color. The tumor is essentially a localized solid collection of leukemic cells that occurs outside the bone marrow. It can occur in many parts of the body such as the chest, vertebrae, pelvis, skin, lymph nodes and parts of the skull. On rare occasions, it can occur in various organs such as the heart and brain. The tumor can occur as a primary condition or may be associated with cancerous conditions such as acute leukemia and acute promyelocytic leukemia. Symptoms will vary depending on the location of the tumor.
  • Cholestatic jaundice -renal tubular insufficiency: A very rare syndrome characterized by liver and kidney problems.
  • Choroideremia: A rare, inherited, progressive eye disease that causes degeneration of the retina and blindness. The disease usually only affects males.
  • Choroideremia -- hypopituitarism: A rare inherited disorder characterized by eye disease and hypopituitarism.
  • Christmas disease: Haemophilia B. An x-linked recessive form of haemophilia due to deficiency of coagulation factor IX
  • Chronic Idiopathic Myelofibrosis: The bone marrow is consists of tissues which make blood cells and fibrous tissue supports these tissues that make the blood cells. In chronic idiopathic myelofibrosis, abnormal cells and fibres build up inside the bone marrow resulting in the production of fewer normal blood cells.
  • Chronic Lymphocytic Leukemia, Susceptibility to: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased susceptibility to chronic lymphocytic leukemia.
  • Chronic Lymphocytic Leukemia, Susceptibility to, 1: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased susceptibility to chronic lymphocytic leukemia. Type 1 is linked to a defect on chromosome 11q13.3
  • Chronic Lymphocytic Leukemia, Susceptibility to, 2: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased susceptibility to chronic lymphocytic leukemia. Type 2 is linked to a defect on chromosome 13q14.
  • Chronic Lymphocytic Leukemia, Susceptibility to, 3: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased susceptibility to chronic lymphocytic leukemia. Type 3 is linked to a defect on chromosome 9q34.1.
  • Chronic Lymphocytic Leukemia, Susceptibility to, 4: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased susceptibility to chronic lymphocytic leukemia. Type 4 is linked to a defect on chromosome 6p25.
  • Chronic Lymphocytic Leukemia, Susceptibility to, 5: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body. Researchers have discovered a link between a number of genetic defects and increased susceptibility to chronic lymphocytic leukemia. Type 5 is linked to a defect on chromosome 11q24.1.
  • Chronic Myeloproliferative Disease, Unclassified: A form of blood disorder characterized by the abnormal proliferation of myeloid precursors in the bone marrow. This category refers to cases of myeloproliferative disease which don't fit into any of the other specific type of myelproliferative diseases.
  • Chronic Myeloproliferative Disorders: A group of blood cancers where excessive numbers of blood cells are made by overactive or cancerous bone marrow. The number of excess blood cells tends to grow slowly. Examples of such disorders includes chronic myelogenous leukemia, polycythemia vera and essential thrombocythemia. The symptoms are determined by which particular blood cancer is involved.
  • Chronic Neutrophilic Leukemia: A rare form of leukemia characterized by excessive levels of mature neutrophils.
  • Chronic adult T-Cell leukemia: A form of blood cancer affecting the T-cells which make up the body's immune system. The disease is caused by the HTLV-1 virus (human T-cell leukemia virus) which causes the proliferation of abnormal T-cells. The virus can be transmitted sexually and may lay dormant for decades. There are four subtypes: acute, chronic, lymphoma and smoldering. The acute and lymphoma subtypes have the poorest prognosis. The acute form tends to progress relatively slowly and generally responds better to treatment than the other subtypes.
  • Chronic anemia: Chronic anemia refers to a low blood cell count that has occurred over a longer period of time rather than suddenly. It is associated with chronic disease processes e.g. kidney disease.
  • Chronic autoimmune neutropenia: An autoimmune reaction where the body produces antibodies to it's own neutrophils which results in neutropenia. It is usually associated with other autoimmune conditions such as rheumatoid arthritis and systemic lupus erythematosus. The infections that occur as a result of the neutropenia tend not to be serious.
  • Chronic benign neutropenia: A reduced level of neutrophils which is not serious and the risk of infection is generally low.
  • Chronic leukemia: Leukemia in which the cell line is well differentiated, usually B lymphocytes.
  • Chronic lymphocytic leukemia: A cancer of the blood and bone marrow where too many abnormal lymphocytes (white blood cells) are produced which eventually crowds out healthy blood cells in the body.
  • Chronic myelogenous leukemia: A slow-growing cancer of the white blood cells where the bone marrow makes too many white blood cells which eventually invade various parts of the body.
  • Chronic myeloid leukemia: Type of leukemia mostly in adults; rarely in children.
  • Chronic myelomonocytic leukemia: A rare form of malignant bone marrow cancer involving the proliferation of immature precursors of certain blood cells - myelocytes and monocytes. The proliferation is slower than in acute forms of the disease.
  • Chronic neutropenia: A blood disorder characterized by a reduced number of neutrophils (type of white blood cell) which affects the body's ability to fight infection.
  • Circulatory disorder: Disease affecting circulation of blood
  • Citrullinemia I: A very rare urea cycle disorder where a lack of the enzyme argininosuccinate synthetase prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects. The neonatal form of citrullinemia type I is generally more serious than the later onset form which may sometimes be mild enough to produce no symptoms.
  • Citrullinemia I, later-onset: A very rare urea cycle disorder where a lack of the enzyme argininosuccinate synthetase prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects. The later-onset form of citrullinemia type I is generally milder than the neonatal form and may sometimes be mild enough to produce no symptoms.
  • Citrullinemia II: A very rare urea cycle disorder involving a deficiency of the transport compound called Citrin. Citrin transports aspartate to where the enzyme argininosuccinic acid synthase can combine it with citrulline to make argininosuccinic acid. The deficiency prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects.
  • Classic Distal Renal Tubular Acidosis: A condition which is characterized by the formation of an acidosis due to a problem with the renal distal tubule
  • Classic galactosemia: Rare serious genetic defect in galactose metabolism.
  • Cleveland dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Cleveland type was discovered in Cleveland.
  • Clotting disorders: Disorder with excessive clotting
  • Coagulopathy: A disorder of the blood where it fails to clot normally.
  • Cold Autoimmune Hemolytic Anemia: Cold autoimmune hemolytic anemia is a condition where the body's immune system triggers the production of antibodies against the body's own red blood cells. The red cells are destroyed at an abnormally rapid rate which leads to anemia. Cold haemolytic anemia is characterized by the fact that the abnormal destruction of red blood cells is more active when the patient is exposed to cold temperatures. The severity of the condition varies depending on the underlying cause. The condition may develop gradually or occur suddenly and cause serious symptoms.
  • Cold agglutination syndrome: A rare disorder where abnormal blood proteins called cold agglutinins cause red blood cells to form clumps and die. The process is triggered by exposure to cold temperatures. A small number of cold agglutinins is normal but larger numbers can cause problems such as anemia.
  • Cold antibody hemolytic anemia: A rare autoimmune condition where the body's defense system attacks and destroys red blood cells. The onset of the condition is triggered by temperatures 30°C or lower.
  • Combined hyperlipidemia, familial: An inherited condition characterized by high cholesterol or triglyceride levels which increases the risk of cardiovascular disease.
  • Comly syndrome: High blood levels of methemoglobin due to drinking water from wells which have a high nitrate concentration. It is most often seen in babies who have their formula made up using well water. The disorder may also occur in infants who are fed high nitrat food such as eggplant, spinach, beets and green beans. Infants who are less than three months old lack sufficient enzymes to prevent the problem.
  • Complement component 2 deficiency: A rare disorder where a deficiency of a compound called complement component 2 impairs the bodies ability to fight infection and autoimmune disorders.
  • Complement component deficiency: Complement components are a part of the immune defense system involved in destroying and removing invading pathogens such as bacteria. A deficiency of the complement components can affect the ability of the body's immune system to function properly. The disorder which can be partial or complete and may be inherited or acquired. The severity of the symptoms is determined by which complement component (there are at least 30 of them) is deficient and whether the deficiency is partial or complete.
  • Complement receptor deficiency: Complement receptors are a part of the immune defense system and they initiate the process of destroying and removing invading pathogens. A deficiency of complement receptors thus affects the immune system. It may be inherited or be associated with autoimmune disorders such as systemic lupus erythematosus diabetic nephropathy patients on hemodialysis.
  • Congenital Afibrinogenemia: A rare disorder involving the inability to make fibrinogen which is essential for the process of blood clotting.
  • Congenital Antithrombin III Deficiency: A hereditary condition resulting in a deficiency of antithrombin III which affects blood clotting
  • Congenital amegakaryocytic thrombocytopenia: A rare birth disorder involving a deficiency of blood platelets required for normal blood clotting.
  • Congenital analbuminemia: A rare disorder where low or absent blood albumin levels are present at birth or soon after. Some cases are virtually asymptomatic as the liver compensates by making other proteins but other cases can result in symptoms such as osteoporosis and high blood lipid levels.
  • Congenital aplastic anemia: A genetic disorder where the bone marrow does not produce enough blood cells. Fanconi's anemia is an example of congenital aplastic anemia.
  • Congenital disorder of glycosylation type X -- Bombay blood group phenotype: A rare inherited disorder characterized by abnormal neutrophil functioning which reduces the body's immunity. The abnormal neutrophils are unable to be transported to sites of infection due to their inability to adhere to certain blood vessel components which would normally lead them to the infection site. Infections may be life-threatening as the body is unable to destroy bacteria effectively. Type 2 LAD is where neutrophils can't adhere to necessary blood vessel components due to the absence of proteins on the blood vessel walls needed to bind and guide the neutrophils to the infection site.
  • Congenital disorder of glycosylation type X -- leukocyte adhesion deficiency syndrome type II phenotype: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type X has an unknown enzyme defect.
  • Congenital nonhemolytic jaundice: A rare disorder where the liver is unable to remove bilirubin from the body which results in jaundice. Chronically high bilirubin levels can lead to neurological toxicity which manifests as progressive neurological symptoms.
  • Congenital spherocytic anemia: Congenital Spherocytic anemia is an inherited blood disorder characterized by red blood cells that are shaped like a sphere (spherocytes) rather than the normal doughnut shape. These abnormal cells are broken down prematurely resulting in a shortage of red blood cells (anemia).
  • Congenital spherocytic hemolytic anemia: A blood disorder present at birth where the membranes of red blood cells are defective which results in them being spherical rather than doughnut-shaped. These abnormally shaped red blood cells are broken down prematurely by the body which results in anemia. The condition may range from mild to severe.
  • Congenital thrombotic disease due to protein C deficiency: A rare blood disorder where deficiency of protein C (anticoagulation agent) results in a predisposition for the formation of blood clots. The severity of the condition is variable. Homozygotes tend to have more severe symptoms while most heterozygotes are asymptomatic. Deficiency of protein C can be an inherited trait or may be acquired through liver disease and after surgery.
  • Cooley syndrome: An inherited blood disorder involving abnormal production of red blood cells which causes serious anemia. It is a severe form of thalassemia.
  • Cope's syndrome: Cope's syndrome is a condition where the body is too alkaline and the blood contains too much calcium. It can be caused by drinking large quantities of milk or using too many alkaline antacid remedies. High vitamin D intake can make the condition worse. The people most at risk of this condition tend to be older people (especially women) who are taking calcium supplements as well as calcium carbonate containing remedies to treat dyspepsia. Severe cases can lead to impaired kidney function (Burnett's syndrome).
  • Cryofibrinogenemia: A rare condition where a blood protein precipitates when it cools and then redissolves once it is warmed again. The disorder can occur for no apparent reason or may be associated with conditions such as cancer, infections and blood clotting disorders. Some sufferers are asymptomatic whereas other develop thrombosis or skin symptoms in response to exposure to cold.
  • Cryoglobulinemia: These are immune cells that precipitate in the cold and redissolve on warming.
  • Cutler Syndrome: A rare disorder characterized by multisystem disorders including muscle wasting, ataxia, epilepsy, anemia and kidney disease. The kidney disease is most likely present at birth.
  • Cyclic neutropenia: A rare blood disorder characterized by recurrent periods of extremely low blood levels of neutrophils which results in frequent infections. The low level usually occurs for about 7 days every 21 days. Levels of other blood components may also be affected.
  • Cycloserine-induced Sideroblastic anemia: Cycloserine -induced sideroblastic anemia is a blood disorder caused by taking a drug called Cycloserine. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blood cells which make them unable to function properly.
  • Cystic fibrosis -- gastritis -- megaloblastic anaemia: A rare syndrome characterized mainly by cystic fibrosis, metaloblastic anemia, mental retardation and gastritis due to helicobacter pylori.
  • Cystic fibrosis -- gastritis -- megaloblastic anemia: A very rare syndrome characterized primarily by cystic fibrosis, anemia and gastritis.
  • D-glycericacidemia: A rare metabolic disorder where the deficiency of an enzyme (D-Glycerate Kinase) causes high levels of glycine in the body.
  • D-minus hemolytic uremic syndrome (D-HUS) -- familial: A rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure. The familial type is not associated with diarrhea and is inherited. Autosomal recessive cases usually start early in life whereas autosomal dominant cases can occur at any age.
  • D-minus hemolytic uremic syndrome (D-HUS) -- pregnancy related: A rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure. This type is not associated with diarrhea and is triggered by pregnancy.
  • D-plus hemolytic uremic syndrome (D+HUS): A rare condition where gastroenteritis involving bloody diarrhea is caused by a bacteria (usually E.Coli) which leads to toxins being present in the blood. These circulating toxins affect red blood cells, kidneys and occasionally even the brain.
  • DIC: DIC s a syndrome triggered by a number of medical conditions including malignancy, infection and liver disease, and results in consumption of clotting factors in the blood.
  • Dana syndrome: A rare inherited disorder characterized by the gradual degeneration of the white matter of the spinal cord and pernicious anemia. Various neurological symptoms can result.
  • Deafness -- lymphoedema -- leukemia: A rare syndrome characterized by deafness, early-onset leukemia and lymphoedema in the lower legs.
  • Deafness hyperuricemia neurologic ataxia: A rare inherited disorder characterized by a high level of uric acid in the blood, renal insufficiency, ataxia and deafness.
  • Deafness-tubular acidosis-anaemia: A rare disorder characterized mainly by abnormal progressive calcification of the spinal cord and brain, kidney anomaly, anemia and deafness.
  • Deal-Barratt-Dillon syndrome: A very rare syndrome characterized mainly by scaly skin, jaundice, diarrhea and Fanconi syndrome (bone marrow fails to make sufficient new blood cells).
  • Debler anemia: A familial type of anemia that starts during infancy and involves the premature destruction of red blood cells.
  • Decrease anion gap: A decrease in the difference between calculated serum anions and cations
  • Decreased HBA1c: Decreased level of glycosylated haemoglobin in the blood.
  • Decreased bicarbonate: A decrease in the amount of bicarbonate in the blood
  • Decreased chloride: A decrease in the amount of chloride in the body.
  • Decreased mean cell haemoglobin: A decreased hemoglobin content of the average red blood cell, calculated from the hemoglobin therein and the red cell count in erythrocyte indices
  • Decreased mean cell haemoglobin concentration: A decreased average haemoglobin concentration in the a specified volume
  • Decreased mean cell volume: A decreased mean red cell volume
  • Decreased oxygen saturation: decreased amount of oxygen that is dissolved or carried in a given medium
  • Decreased protein C: A protein which is necessaryto prevent theclotting cascade and is autosomal dominant with regards to inheritance
  • Decreased protein S: A protein which is necessary to prevent the clotting cascade
  • Decreased reticulocyte count: A decrease in the number of reticulocytes in the plasma
  • Decreased serum phosphate: Decreased serum phosphate (or hypophosphatemia) refers to an electrolyte disturbance involving a lower than normal level of phosphate in the blood. This abnormality may in some cases be associated with increased levels of phosphate in the urine but this depends on the underlying cause. The nature and severity of symptoms can vary considerably depending on how low the serum phosphate level is.
  • Decreased serum urea: A decreased amount of urea in the blood plasma
  • Deep vein thrombosis: Blood clot in vein, often in calf muscle vein in the leg.
  • Defibrination syndrome: The generation of fibrin in the blood and consumption of pro-coagulants and platelets occurring in complications of obstetrics
  • Dehydration: Loss of fluids in the body
  • Detroit dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Detroit type was discovered in Detroit.
  • Di Guglielmo I -- acute: A rare condition characterized by the presence of abnormal red blood cells in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The acute form has more severe symptoms than the chronic form.
  • Di Guglielmo I -- chronic: A rare condition characterized by the presence of abnormal red blood cells in the bone marrow and blood. The condition is characterized by anemia and generally leads to the development of acute myelogenous leukemia. The chronic form has more severe symptoms than the acute form.
  • Diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea: A rare condition involving autoimmune problems which can variably manifest as enteropathy (diarrhea), hemolytic anemia, and endocrine gland diseases such as diabetes mellitus and thyroid disease. Resistance to viral infections is poor. The condition is life-threatening, especially during infancy and early childhood. As the condition is inherited in a X-linked manner, males tend to suffer severe symptoms whereas females suffer few if any symptoms as they are a carrier of the condition.
  • Diabetic Ketoacidosis: Life-threatening complication of high blood sugars and diabetes.
  • Diabetic hypoglycemia: Low blood sugar attack from insulin or diabetes medications
  • Dialysis-related amyloidosis: Amyloidosis (protein deposits) from kidney dialysis treatment.
  • Diamond-Blackfan anemia: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
  • Diamond-Blackfan anemia 1: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 1 is caused by a defect on the RPS19 gene located on chromosome 18q13.2.
  • Diamond-Blackfan anemia 2: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 2 is caused by a defect on chromosome 19q13.2.
  • Diamond-Blackfan anemia 3: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 3 is caused by a defect on the RPS24 gene located on chromosome 10q22-q23.
  • Diamond-Blackfan anemia 4: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 4 is caused by a defect on the RPS17 gene located on chromosome 15q.
  • Diamond-Blackfan anemia 5: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 5 is caused by a defect on the RPL35A gene located on chromosome 3q29-qter.
  • Diamond-Blackfan anemia 6: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 6 is caused by a defect on the RPL5 gene located on chromosome 1p22.1.
  • Diamond-Blackfan anemia 7: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 7 is caused by a defect on the RPL11 gene located on chromosome 1p36.1-p35.
  • Diamond-Blackfan anemia 8: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 8 is caused by a defect on the RPS7 gene on chromosome 2p25.
  • Diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked: A rare condition involving autoimmune problems which can variably manifest as enteropathy (diarrhea), hemolytic anemia, and endocrine gland diseases such as diabetes mellitus and thyroid disease. Resistance to viral infections is poor. The condition is life-threatening, especially during infancy and early childhood. As the condition is inherited in a X-linked manner, males tend to suffer severe symptoms whereas females suffer few if any symptoms as they are a carrier of the condition.
  • Dilutional hyponatremia: Low sodium levels due to excessive fluids.
  • Dimorphic anemia: Dimorphic refers to anemia that has two different causes acting together e.g. iron deficiency as well as a Vitamin B12 deficiency.
  • Diphosphoglycerate mutase deficiency of erythrocyte: A rare inherited condition where a deficiency of an erythrocyte enzyme diphosphoglycerate mutase in red blood cells impairs the ability of red blood cells to deliver oxygen to body tissues that need it. In response, the body produces more red blood cells to assist oxygen delivery.
  • Diseases contagious from blood: Diseases that can be contracted from blood
  • Diseases contagious from blood transfusion: Diseases that affect the digestive system
  • Disequilibrium syndrome: A complication that can occur during or after dialysis and probably caused by abnormal water balance within the brain. Swelling of the brain causes a range of neurological symptoms.
  • Disorder of Cornification 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
  • Doxepine-induced Immune Hemolytic Anemia: Doxepine -induced immune hemolytic anemia is a condition where use of a medication called Methyldopa triggers the body's immune system to destroy it's own red blood cells which results in anemia.
  • Dressler (D.)syndrome: A rare autoimmune blood disorder where erythrocytes are destroyed suddenly after exposure to cold (usually 15°C or lower).
  • Drug-Induced neutropenia: A severe form of neutropenia (low neutrophil levels) caused by a reaction to a drug. The reaction may be immune-mediated or result from inhibition of neutrophil production by the bone marrow. It usually occurs one to two weeks after the first drug dose. However, if there is a history of this reaction to a particular drug, further exposure to the drug can result in a swift reaction. Some of the drugs that are prone to such reactions are chemotherapy, penicillin, sulfonamides, aspirin, barbiturates, chlorpromazine and propythiouracil.
  • Drug-induced Immune Hemolytic Anemia: Drug-induced immune hemolytic anemia is a condition where a medication triggers the body's immune system to destroy its own red blood cells which results in anemia. Certain drugs are more likely to trigger this abnormal immune response than others e.g. cephalosphorins and Quinidine.
  • Drug-induced Sideroblastic anemia: Drug-induced sideroblastic anemia is a blood disorder caused by drugs such as cycloserine, isoniazid and ethanol. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blood cells which make them unable to function properly.
  • Dursun Syndrome: A rare syndrome characterized mainly by the association of heart anomalies, pulmonary hypertension and leukopenia (reduced number of white blood cells).
  • Dyserythropoietic anemia, congenital: A congenital blood condition where the production of red blood cells is defective. The abnormal red blood cells are often destroyed prematurely within the body which can result in anemia. There are three subtypes of the disorder, each with varying severity of symptoms.
  • Dyserythropoietic anemia, congenital type 1: A very rare genetic blood disorder where abnormal red blood cells are made resulting in anemia. Finger and toe abnormalities are also usually present.
  • Dyserythropoietic anemia, congenital type 2: A very rare genetic blood disorder where abnormal red blood cells are made resulting in anemia.
  • Dyserythropoietic anemia, congenital type 3: An extremely rare blood disorder where abnormal red blood cells are made resulting in anemia.
  • Dysfibrinogenemia, familial: A rare familial disorder characterized by abnormal fibrinogen. There are various types of this order and they can vary in severity from asymptomatic to causing abnormal bleeding and blood clotting. Examples of subtypes includes Amsterdam, Detroit and Wiesbaden dysfibrinogenemia.
  • Dyslipidemia: Abnormal lipid levels in the blood which may manifest as high cholesterol, triglycerides or LDL and low HDL.
  • EGE: A rare disorder where white blood cells (eosinophils) infiltrate the layers of the lining of the stomach and intestines and cause gastrointestinal symptoms. The degree of infiltration will determine the severity of symptoms.
  • Eclampsia: Eclampsia is the development of seizures or coma in pregnant women suffering from high blood pressure. Eclampsia is a serious condition which requires urgent medical treatment. Eclampsia may be associated with moderate as well as significant increases in blood pressure. The blood pressure can return to normal after delivery or may persist for a period of time.
  • Ehlers-Danlos syndrome with Platelet Dysfunction from Fibronectin Abnormality: A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae).
  • Electrolyte abnormality: An imbalance in the level of any of a number of chemicals (electrolytes) in the blood stream e.g. chloride, sodium, magnesium, potassium, calcium, phosphate and bicarbonate. Symptoms can vary depending on which electrolyte is involved and the severity of the imbalance - severe cases can readily lead to death. An electrolyte abnormality can be caused by such things excessive loss of body fluid through vomiting or diarrhea, kidney conditions, malabsorption and various drugs such as diuretics and chemotherapy drugs.
  • Elliptocytosis 1: An inherited blood disorder where a significant number of red blood cells (erythrocytes) are elliptical or oval shaped rather than doughnut shaped. Anemia results when the abnormal red blood cells are destroyed. The severity of the anemia is variable with some cases resulting in fetal death and others being relatively asymptomatic. Type 1 is caused by a defect in the gene on chromosome 1p36.2-p34 for a protein in the red cell membrane.
  • Embolism: Blockage of an artery or blood vessel
  • Enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy: A rare condition involving autoimmune problems which can variably manifest as enteropathy (diarrhea), hemolytic anemia, and endocrine gland diseases such as diabetes mellitus and thyroid disease. Resistance to viral infections is poor. The condition is life-threatening, especially during infancy and early childhood. As the condition is inherited in a X-linked manner, males tend to suffer severe symptoms whereas females suffer few if any symptoms as they are a carrier of the condition.
  • Epstein (C.J.) syndrome: A rare condition characterized by deafness, kidney inflammation, a reduced number of normal blood platelets needed for clotting and the presence of large blood platelets.
  • Epstein's Syndrome: A syndrome characterized by the association of kidney disease, deafness and a blood disorder.
  • Erdheim-Chester Disease: A condition which is defined as a non langerhans cell histiocytosis
  • Erdheim-Chester syndrome: A very rare lipid storage disorder involving lipid deposits in various organs and hardening of the ends of long bones which affects the growth of the bone. The severity of the condition is variable.
  • Erythroblastopenia: A form of anemia involving the absence of red blood cell precursors which results in a low red blood cell count. The blood abnormality may be congenital or acquired through such things as particular viral infections or drug use. Without treatment, symptoms become progressively worse.
  • Erythroblastosis fetalis: A condition which is characterized by a hemolytic anaemia of the fetus due to transplacental transmission of antibodies
  • Erythropoietic Protoporphyria: A condition where there is excessive formation of porphyrin or its precursor
  • Essential mixed cryoglobulinemia: A rare autoimmune disorder characterized by the presence of a mixture of various types of antibodies (crylglobulins) in the blood.
  • Essential thrombocytopenia: A rare blood disorder characterized by an excessively low number of platelets in the blood which often results in hemorrhages.
  • Essential thrombocytosis -- same as essential thrombocythemia: A rare blood disorder where the blood contains too many platelets due to excessive megakaryocytes (platelet-producing cells). Platelets are essential for blood clotting but in essential thrombocythemia excessive platelets can cause the blood to form abnormal clots. If the platelets are defective as well then bleeding problems can occur. The severity of the condition is variable.
  • Estren-Dameshek syndrome: A form of anemia inherited in a familial pattern. It is considered a variant of a condition called Fanconi's anemia.
  • Ethanol-induced Sideroblastic anemia: Ethanol-induced sideroblastic anemia is a blood disorder caused by consuming ethanol. The body has sufficient iron levels but is unable to utilise it properly in red blood cells. The iron becomes abnormally deposited in red blood cells which make them unable to function properly.
  • Eugenol oil poisoning: Eugenol oil is used as a supplement or as a therapeutic ingredient in various medications and foods but excessive doses of undiluted oil can cause symptoms. Smoking undiluted cloves in cigarettes can also cause symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Evan's syndrome: A rare condition where circulating antibodies red blood cells and a low level of blood platelets causing low iron levels and reduced blood clotting ability.
  • Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis: A rare syndrome characterized mainly by anemia, pancreatic dysfunction and abnormal skull calcification.
  • Extramedullary Myeloid Tumor: A rare type of tumor that develops from myeloid cells (type of immature white blood cell) and tends to usually have a greenish color. The tumor is essentially a localized solid collection of leukemic cells that occurs outside the bone marrow. It can occur in many parts of the body such as the chest, vertebrae, pelvis, skin, lymph nodes and parts of the skull. On rare occasions, it can occur in various organs such as the heart and brain. The tumor can occur as a primary condition or may be associated with cancerous conditions such as acute leukemia and acute promyelocytic leukemia. Symptoms will vary depending on the location of the tumor.
  • Factor 8 deficiency, congenital: A rare blood disorder where a deficiency of a blood coagulation protein called Factor VIII is partially or completely absent. The severity of the bleeding is variable depending on the level of deficiency.
  • Factor IX Deficiency: A condition which is characterized by a deficiency of a factor Ix which is essential for the process of blood clotting
  • Factor V Leiden mutation: A rare genetic condition where a abnormalities in the factor V protein prevent it from being inactivated by protein C which causes the blood to clot. The normal processes which regulate the blood coagulation process is impaired. The homozygous form of the condition carries a greater risk of blood clotting than the heterozygous form.
  • Factor V Quebec: An inherited bleeding disorder reported in Quebec, Canada.
  • Factor V and factor VIII, combined deficiency of: A rare inherited blood disorder where a deficiency of Factor V and factor VIII results in bleeding problems. Factor V and factor VIII is involved in blood coagulation.
  • Factor V deficiency: An inherited disorder where the deficiency of a blood component affects its ability to clot properly which can lead to bleeding problems. The severity of the disorder can vary from easy bruising to life-threatening hemorrhages.
  • Factor VII deficiency: A rare inherited blood disorder caused by a deficiency of a blood protein called Factor VII and resulting in poor blood coagulation. The severity of the condition is variable.
  • Factor X deficiency: A rare blood clotting disorder which may be inherited or acquired in people suffering from conditions such as liver disease, amyloidosis, leprosy and certain cancers. The underlying cause is the deficiency of a protein (Factor X) which is needed for the blood to clot properly. The condition may cause mild to severe bleeding depending on the degree of deficiency of Factor X.
  • Factor X deficiency -- Friuli: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Fruili variant tends to only cause moderate bleeding problems and occurs mainly in an area of Italy called Fruili.
  • Factor X deficiency -- Kanazawa: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Kanazawa variant results in reduced Factor X blood clotting activity.
  • Factor X deficiency -- Ketchikan: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Ketchikan variant results in reduced Factor X blood clotting activity.
  • Factor X deficiency -- Nottingham: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Nottingham variant results in reduced Factor X blood clotting activity.
  • Factor X deficiency -- Padua: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Padau variant results in reduced Factor X blood clotting activity.
  • Factor X deficiency -- San Antonio: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The San Antonia variant results in 14% of normal Factor X blood clotting activity.
  • Factor X deficiency -- Santo Domingo: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Santo Domingo variant results in reduced Factor X blood clotting activity.
  • Factor X deficiency -- Shanghai: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Shangai variant results in reduced Factor X blood clotting activity.
  • Factor X deficiency -- St. Louis II: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The St. Louis II variant results in reduced Factor X blood clotting activity.
  • Factor X deficiency -- Stockton: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Stockton variant results in reduced Factor X blood clotting activity.
  • Factor X deficiency -- Taunton: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Taunton variant results in reduced Factor X blood clotting activity.
  • Factor X deficiency -- Tokyo: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Tokyo variant results in reduced Factor X blood clotting activity.
  • Factor X deficiency -- Vorarlberg: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Vorarlberg variant results in reduced Factor X blood clotting activity.
  • Factor X deficiency -- Wenatchee I: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Wenatchee I variant results in reduced Factor X blood clotting activity.
  • Factor X deficiency -- Wenatchee II: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The Wenatchee II variant results in reduced Factor X blood clotting activity.
  • Factor X deficiency -- autosomal dominant: A rare inherited blood clotting disorder where there is a deficiency of a protein (Factor X) which is needed for the blood to clot properly. The autosomal dominant variant results in reduced Factor X blood clotting activity.
  • Factor XI deficiency, congenital: A rare inherited bleeding disorder characterized by a deficiency of a blood protein called Factor XI which is needed for the blood clotting process. The condition is generally quite mild but the severity of the condition is variable.
  • Factor XII Deficiency:
  • Factor XIII Deficiency: A very rare inherited or acquired blood disorder caused by a deficiency of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
  • Factor XIII deficiency, congenital: A very rare inherited blood disorder caused by a deficiency of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
  • Factor XIII, A1 subunit Deficiency: A very rare inherited or acquired blood disorder caused by a deficiency of subunit A of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
  • Factor XIII, B subunit Deficiency: A very rare inherited or acquired blood disorder caused by a deficiency of subunit B of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
  • Familial Dysbetalipoproteinemia: An hereditary condition characterized by the accumulation of abnormal B-lipoproteins in the blood
  • Familial Hypercholesterolemia: A genetic abnormality which causes patients to have abnormally high cholesterol levels (low-density lipoproteins). The condition usually leads to early cardiovascular disease.
  • Familial chronic benign neutropenia: A harmless from of chronic neutropenia which tends to run in families. The infections are usually mild and patients are generally asymptomatic.
  • Familial dysalbuminemic hyperthyroxinemia: An inherited characteristic involving increased levels of thyroxine in the blood and abnormal serum blood despite normal thyroid gland functioning. The condition may be mistaken for hyperthyroidism.
  • Familial erythrocytosis, 1: A rare genetic blood disorder resulting in an increased red blood cell count. The genetic mutation occurs on the erythropoietin gene on chromosome 19p13.3-p13.2.
  • Familial erythrocytosis, 2: A rare genetic blood disorder resulting in an increased red blood cell count. The genetic mutation occurs on the VHL gene on chromosome 3p26-p25.
  • Familial erythrocytosis, 3: A rare genetic blood disorder resulting in an increased red blood cell count. The genetic mutation occurs on the erythropoietin gene on chromosome 1q42-q43.
  • Familial erythrocytosis, 4: A rare genetic blood disorder resulting in an increased red blood cell count. The genetic mutation occurs on the erythropoietin gene on chromosome 2p21-p16.
  • Familial hyperchylomicronemia: A rare inherited inborn error of metabolism involving the absence of the enzyme called lipoprotein lipase which results in increased blood triglyeride and chylomicron levels.
  • Familial hyperlipoproteinemia: A group of genetic disorder characterized by abnormal breakdown of lipoproteins which causes abnormal lipoprotein and lipid levels in the blood. There are various types of this condition: hyperlipoproteinemia type I, II, III, IV and V. The type and severity of symptoms vary between types. The disorder tends to run in families (familial).
  • Familial hyperlipoproteinemia type 1: A genetic disorder characterized by abnormal lipid (chylomicrons and high triglyceride lipids) breakdown which results in its accumulation in the blood. The disorder is caused by the reduced or absent activity of the enzyme lipoprotein lipase. The severity of the condition is determined by the degree of the deficiency and treatment. The disorder tends to run in families (familial).
  • Familial hyperlipoproteinemia type 3: A genetic disorder characterized by abnormal lipid (cholesterol and triglyceride) breakdown which causes it to accumulate in the blood. The disorder tends to run in families (familial).
  • Familial hyperlipoproteinemia type 4: A familial condition where even a normal diet can result in blood lipid abnormalities.
  • Familial hypertriglyceridemia: A familial condition where even a normal diet can result in blood lipid abnormalities.
  • Familial hypertryptophanemia: A rare genetic metabolic disorder characterized by high levels of tryptophan in the blood. The disorder tends to run in families (familial).
  • Familial myelofibrosis: A rare condition where progressive scarring or fibrosis of the bone marrow impairs it's ability to make blood cells causing symptoms such as anemia and liver and spleen enlargement.
  • Familial platelet syndrome with predisposition to acute myelogenous leukemia: A rare inherited blood disorder that is associated with an increased risk of myeloid malignancies - especially acute myelogenous leukemia.
  • Familial primary cryofibrinogenemia: A rare inherited disorder where exposure to cold causes various symptoms due to the presence of cryofibrinogen in the blood which precipitates when exposed to cold.
  • Fanconi anemia type C: A rare inherited blood disorder characterized by a lack of blood cells (red and white blood cells and blood platelets).
  • Fanconi like syndrome: A rare condition characterized by a poor immune system, skin tumors and a reduced number of all type of blood cells.
  • Fanconi pancytopenia: A rare genetic disorder characterized by upper limb defects and kidney abnormalities.
  • Fanconi syndrome: Fanconi syndrome that occurs secondary to the accumulation of crystals of light-chain immunoglobulin molecules in the kidney tubules which affects their functioning.
  • Fanconi's anemia: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Complementation group A: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The subtype called Complementation group A refers to a genetic subtype of the disease. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Complementation group B: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The subtype called Complementation group B refers to a genetic subtype of the disease. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Complementation group C: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The subtype called Complementation group C refers to a genetic subtype of the disease. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Complementation group D1: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The subtype called Complementation group D1 refers to a genetic subtype of the disease. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Complementation group D2: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The subtype called Complementation group D2 refers to a genetic subtype of the disease. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Complementation group E: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The subtype called Complementation group E refers to a genetic subtype of the disease. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Complementation group F: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The subtype called Complementation group F refers to a genetic subtype of the disease. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Complementation group G: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The subtype called Complementation group G refers to a genetic subtype of the disease. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Complementation group I: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The subtype called Complementation group I refers to a genetic subtype of the disease. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Complementation group J: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The subtype called Complementation group J refers to a genetic subtype of the disease. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Complementation group L: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The subtype called Complementation group L refers to a genetic subtype of the disease. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Complementation group M: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The subtype called Complementation group M refers to a genetic subtype of the disease. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Complementation group N: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The subtype called Complementation group N refers to a genetic subtype of the disease. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's anemia -- Estren-Dameshek variant: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. The Estren-Dameshek variant is Fanconi's anemia without the presence of any physical malformations or deformities which are often associated with Fanconi's anemia. An increased incidence of leukemias and other cancers is associated with this condition. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fanconi's syndrome: A rare condition where malfunction of the proximal tubes of the kidney causes the kidneys to excrete substances like glucose, amino acids and phosphate into the urine instead of allowing it to be reabsorbed back into the bloodstream. Fanconi's syndrome may be hereditary or can be caused by conditions such as Vitamin D deficiency and amyloidosis.
  • Fanconi-ichthyosis-dysmorphism: A very rare syndrome characterized by scaly skin (ichthyosis), anemia, muscle anomalies and various other abnormalities. All six reported cases died within 6 months.
  • Fatigue: Excessive tiredness or weakness.
  • Favism: Form of hemolytic anemia that can occur after eating fava beans (broad beans) or walking through a field of the plants. The conditions is inherited.
  • Faye-Petersen-Ward-Carey syndrome: A very rare syndrome characterized by excess fluid in the skull, a blood disorder and bone and bone abnormalities.
  • Fechtner syndrome: A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes.
  • Felty Syndrome: A rare complication of long-term rheumatoid arthritis which involves an enlarged spleen and blood abnormalities.
  • Fetal and neonatal alloimmune thrombocytopenia: A rare, potentially life-threatening disorder where the mother's blood platelets are incompatible with that of the fetus and the mother's antibodies cross the placenta and destroy fetal platelets.
  • Fibrinogen deficiency, congenital: A rare congenital disorder characterized by the inability to make fibrinogen which is essential for the process of blood clotting.
  • Fibronectin-Deficient EDS: A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae).
  • Fitzgerald-Williams-Flaujeac trait: A rare condition characterized by a deficiency of a protein called High-molecular-weight kininogen which is generally benign but can result in the blood taking longer than normal to clot.
  • Folate-deficiency anemia: Folate-deficiency anemia is a blood condition characterized by low levels of folate in the body which leads to a reduction in the number of red blood cells. It is usually the result of a poor diet, malabsorption issues or the use of certain medications.
  • Franek-Bocker-Kahlen syndrome: A rare syndrome characterized mainly by a small head, brain defect, spasticity and high sodium level.
  • Fungemia: The presence of fungi in the blood. Most commonly occurs in people with a compromised immune system. Other risk factors include dialysis, burns, diabetes and use of broad-spectrum antibiotics and steroids. The severity of symptoms is variable.
  • Galactokinase deficiency: A rare condition where an enzyme deficiency (galactokinase) impaires the body's ability to break down galactose consumed in the diet.
  • Galactorrhoea-Hyperprolactinaemia: Increased blood prolactin levels associated with galactorrhea (abnormal milk secretion). It may be caused by such things as certain medications, pituitary disorders and thyroid disorders. The condition can occur in males as well as females.
  • Galactosemia: Any of a number of recessive disorders that cause accumulation of galactose in the blood from an inability to metabolise galactose
  • Galactosemia I: A rare inherited disorder where deficiency of a particular enzyme (galactose-1-phosphate uridyl transferase) prevents the metabolism of galactose which is a sugar component of milk. Ranges from milk intolerance in mild cases to death in severe untreated cases.
  • Galactosemia III: A rare inherited disorder where deficiency of a particular enzyme (UDP-Galactose-4-epimerase) prevents the metabolism of galactose which is a sugar component of milk. The condition may vary from mild to severe.
  • Gardner-Morrisson-Abbot syndrome: A rare syndrome characterized by thrombocytopenia and various other abnormalities present at birth.
  • Gasser-Karrer syndrome: A type of hemolytic anemia which is fatal. The condition was first observed in a premature infant.
  • Ghosal syndrome: A very rare syndrome characterized mainly by difficult to treat anemia and skeletal abnormalities.
  • Glanzmann Thrombasthenia: A haemorrhagic disorder which causes a prolonged bleeding time
  • Glutaric Acidemia Type I: A condition which results in an inability to process the amino acids lysine, hydroxylysine and tryptophan
  • Glutaric Acidemia Type II: A condition which is characterized by an inability of the body to use fats and proteins of the body for energy
  • Goldstein-Hutt syndrome: A rare syndrome characterized mainly by cataracts, excessive eyelash growth and and a blood abnormality (the red blood cells are spherical instead of doughnut shaped which makes them fragile).
  • Granulocytopenia: Reduced number of granulocytes in the blood. Granulocytes are a type of white blood cell (neutrophils, eosinophils and basophils). White blood cells help protect the body from invading pathogen and hence act as the body's defense to infection.
  • Grasbeck-Imerslund Disease: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
  • Gray platelet syndrome: A rare inherited disease characterized by deficiency of alpha granule inside blood platelets which inhibits it's clotting ability.
  • Haemoglobinemia: A blood condition where there is excessive amounts of free hemoglobin in the blood plasma. It may be due to destruction of blood cells within the blood vessels or from other processes which result in hemoglobin separating from the red blood cell.
  • Hageman factor deficiency: A congenital blood disorder where there is a deficiency of the Hageman factor (blood factor XII) which is required for blood clotting. Other blood clotting factors compensate for the missing factor so most patients are generally asymptomatic.
  • Hairy cell leukemia: A chronic leukemia which causes an excess of abnormal mononuclear cells which appear hair like under microscopy
  • Hand-Schuller-Christian Syndrome: A group of blood disorder involving excess production of histiocytes (type of immune cell) throughout the body. Accumulation of histiocytes results in non-cancerous growths which can damage organs and other body tissues such as bones. Symptom vary hugely and depend on location and size of tumor growths.
  • Headache: In medicine a headache or cephalalgia is a symptom of a number of different conditions of the head and sometimes neck. Some of the causes are benign while others are medical emergencies. It ranks among the most common pain complaints
  • Heat cramps: Muscle cramps related to exertion
  • Heavy-chain diseases: A group of rare condition characterized by the production of the heavy chain portions of immunoglobulin molecules. Subtypes include y-chain disease, µ-chain disease and α-chain disease.
  • Heiner syndrome: A disease caused by the precipitation in the blood of antibodies to cow's milk.
  • Hemangioma thrombocytopenia syndrome: A rare condition characterized by a spreading congenital hemangioma (collection of abnormal blood vessels) usually on the skin as well as blood clotting problems.
  • Hemochromatosis: Excess of iron leading to problems with joints, liver, heart and pancreas.
  • Hemodialysis: A treatment used to remove toxic elements from the blood
  • Hemoglobin C Thalassemia: A rare genetic blood disorder that can cause mild hemolytic anemia but is asymptomatic in most patients. This condition is also known as Hemoglobin C Disease.
  • Hemoglobin C disease: An inherited blood condition characterized by abnormal hemoglobin (hemoglobin C) which leads to premature break down of red blood cells and hence anemia. In homozygous patients (a hemoglobin C gene is inherited from both parents) mild hemolytic anemia may develop as nearly all of the hemoglobin is of the abnormal hemoglobin C form. In heterozygous patients (a hemoglobin C gene is inherited from one parent) more than half of the hemoglobin is normal and the patient is asymptomatic. Hemoglobin C occurs commonly in West African populations and is believed to provide some protection against severe malaria.
  • Hemoglobin C homozygous (CC): A rare genetic blood disorder which tends to only cause mild hemolytic anemia.
  • Hemoglobin D Homozygous (DD): A blood disorder which may cause mild hemolytic anemia.
  • Hemoglobin E disease: A recessively inherited genetic blood disorder characterized by abnormally small red blood cells which generally causes no health problems. Some people may suffer mild hemolytic anemia or a slightly enlarged spleen.
  • Hemoglobin E homozygous: A rare genetic blood anomaly which may cause anemia and occasionally an enlarged spleen.
  • Hemoglobin F, Hereditary persistence of, heterocellular: A harmless blood variant. At birth, fetal hemoglobin is usually replaced by adult hemoglobin within a few months. Persistence of fetal hemoglobin means that some of the fetal hemoglobin still remains in production. The blood anomaly remains for life but causes no problems. In the heterocellular form, only some red blood cells contain increased levels of fetal hemoglobin.
  • Hemoglobin F, Hereditary persistence of, pancellular: A harmless blood variant. At birth, fetal hemoglobin is usually replaced by adult hemoglobin within a few months. Persistence of fetal hemoglobin means that some of the fetal hemoglobin still remains in production. The blood anomaly remains for life but causes no problems. In the pancellular form, all red blood cells contain increased levels of fetal hemoglobin.
  • Hemoglobin H: A genetic blood anomaly that causes enlarged liver and spleen and hemolytic anemia.
  • Hemoglobin S-G (S-D): A genetic blood anomaly which is asymptomatic.
  • Hemoglobin S/hemoglobin Lepore, Boston: A blood disorder that mainly causes hemolytic anemia with great variability of symptoms.
  • Hemoglobin S/hemoglobin O, Arab: A genetic blood anomaly which causes severe hemolytic anemia, fever, pain, cramping and excessive bleeding.
  • Hemoglobin SC: A genetic blood disorder where the patient inherits a gene for hemoglobin S from one parent and hemoglobin C from another. Severity of symptoms is variable.
  • Hemoglobin, constant spring: A generally mild form of anemia caused by a defect in the hemoglobin which is the part of the blood that carries oxygen to the body tissues. The biggest risk of this condition is the fact that children born to carriers of this and other blood disorders may inherit more severe forms of blood disorders.
  • Hemoglobinemia: A blood condition where there is excessive amounts of free hemoglobin in the blood plasma. It may be due to destruction of blood cells within the blood vessels or from other processes which result in hemoglobin separating from the red blood cell.
  • Hemoglobinopathy: A disease of the blood characterized by abnormal hemoglobin in the blood. The abnormality usually arises from a genetic defect which results in the hemoglobin have an abnormal structure. Sickle-cell disease and thalassemia are examples of hemoglobinopathies. Symptoms may vary from unnoticeable to severe with anemia being the most common symptom.
  • Hemoglobinuria: A medical term for the presence of blood in the urine. There are a large number of serious and benign conditions that can cause large or small amounts of blood in the urine.
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 1: Atypical hemolytic uremic syndrome is a rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure that has no obvious cause. Researchers have discovered a number of genes linked to an increased susceptibility to developing the condition. Type 1 is linked to a genetic defect on chromosome 8q34.3.
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 2: Atypical hemolytic uremic syndrome is a rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure that has no obvious cause. Researchers have discovered a number of genes linked to an increased susceptibility to developing the condition. Type 2 is linked to a genetic defect on chromosome 1q32.
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 3: Atypical hemolytic uremic syndrome is a rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure that has no obvious cause. Researchers have discovered a number of genes linked to an increased susceptibility to developing the condition. Type 3 is linked to a genetic defect on chromosome 4q25.
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 4: Atypical hemolytic uremic syndrome is a rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure that has no obvious cause. Researchers have discovered a number of genes linked to an increased susceptibility to developing the condition. Type 4 is linked to a genetic defect on chromosome 6p21.3.
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 5: Atypical hemolytic uremic syndrome is a rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure that has no obvious cause. Researchers have discovered a number of genes linked to an increased susceptibility to developing the condition. Type 5 is linked to a genetic defect on chromosome 19p13.3-p13.2.
  • Hemolytic Uremic Syndrome, Atypical, Susceptibility to, 6: Atypical hemolytic uremic syndrome is a rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure that has no obvious cause. Researchers have discovered a number of genes linked to an increased susceptibility to developing the condition. Type 6 is linked to a genetic defect on chromosome 20p11.2.
  • Hemolytic anaemia due to adenylate kinase deficiency: A rare condition characterized by the association of a deficiency of an enzyme called adenylate kinase and hemolytic anemia. There appears to be no conclusive cause-effect relationship between the two characteristics as some patients with virtually no pyruvate kinase activity can have only mild or no anemia whereas others with significant pyruvate kinase activity can have anemia.
  • Hemolytic anaemia, lethal -- genital anomalies: A very rare syndrome characterized mainly by genital abnormalities and hemolytic anemia which often causes death.
  • Hemolytic anemia: Hemolytic anemia is a term used to describe the premature desctruction of red blood cells. Red blood cells are normally broken down every 3-4 months and replaced but in haemolytic anemia the red blood cells are broken down at a faster rate than they can be replenished. The causes are numerous and the severity ranges considerably. Severe cases can lead to death.
  • Hemolytic anemia due to adenylate kinase deficiency: A rare condition characterized by the association of a deficiency of an enzyme called adenylate kinase and hemolytic anemia. There appears to be no conclusive cause-effect relationship between the two characteristics as some patients with virtually no pyruvate kinase activity can have only mild or no anemia whereas others with significant pyruvate kinase activity can have anemia.
  • Hemolytic anemia, acquired autoimmune: A rare autoimmune disorder where red blood cells are destroyed prematurely by the body's own malfunctioning immune system. The severity of the condition is determined by the bone marrow's ability to replace the destroyed cells and how prematurely the red blood cells are destroyed.
  • Hemolytic anemia, lethal -- genital anomalies: A very rare syndrome characterized mainly by genital abnormalities and hemolytic anemia which often causes death.
  • Hemolytic disease of the newborn: Blood disease in newborns mainly related to Rh incompatibility
  • Hemolytic jaundice: A condition which is characterized by jaundice due to an increased production of bilirubin from degradation of red blood cells
  • Hemolytic uremic syndrome: A rare condition characterized by acute kidney failure, hemolytic anemia and thrombocytopenia (reduced blood platelet count). The condition is often caused by upper respiratory infections or infectious diarrhea.
  • Hemolytic uremic syndrome, atypical, childhood: A rare disorder involving destruction of blood cells and kidney disease. Unlike typical hemolytic uremic syndrome which usually follows a bacterial infection, the atypical form is possibly a genetic disorder. The distinguishing feature of the atypical form is that no diarrhea is involved. The atypical form has a poorer prognosis than the typical form.
  • Hemophagocytic Lymphohistiocytosis: A condition which is characterized by an abnormal appearance of histiocytes in the blood
  • Hemophagocytic lymphohistiocytosis, familial, 1: A rare recessively inherited disorder involving an overactive immune system. More specifically, the body becomes infiltrated by large numbers of histiocytes (macrophages) that accumulate in various organs such as the liver, spleen, bone marrow, skin and central nervous system. It usually only occurs in infants and young children and can be life-threatening.
  • Hemophagocytic lymphohistiocytosis, familial, 2: A rare recessively inherited disorder involving an overactive immune system. More specifically, the body becomes infiltrated by large numbers of histiocytes (macrophages) that accumulate in various organs such as the liver, spleen, bone marrow, skin and central nervous system. It usually only occurs in infants and young children. Type 2 is caused by a defect on chromosome 10q22.
  • Hemophagocytic lymphohistiocytosis, familial, 3: A rare recessively inherited disorder involving an overactive immune system. More specifically, the body becomes infiltrated by large numbers of histiocytes (macrophages) that accumulate in various organs such as the liver, spleen, bone marrow, skin and central nervous system. It usually only occurs in infants and young children. Type 3 is caused by a defect on chromosome 17q25.1.
  • Hemophagocytic lymphohistiocytosis, familial, 4: A rare recessively inherited disorder involving an overactive immune system. More specifically, the body becomes infiltrated by large numbers of histiocytes (macrophages) that accumulate in various organs such as the liver, spleen, bone marrow, skin and central nervous system. It usually only occurs in infants and young children. Type 4 is caused by a defect on chromosome 6q24.
  • Hemophagocytic reticulosis: The abnormal proliferation of reticulum cell (histiocytes) which infiltrate various organs and. Macrophages destroy blood cells causing blood abnormalities. Meningoencephalitis frequently occurs when the histiocytes infiltrate the mininges and cerebral tissue. Symptoms start at birth or soon after and become progressively worse without treatment. Medication can control the condition but a hematopoietic stem cell transplant is needed to achieve remission.
  • Hemophilia: Blood disease usually genetic causing failure to clot.
  • Hemophilia A: A rare coagulation disorder caused by a deficiency of factor VIII which results in bleeding problems.
  • Hemophilia B: A rare coagulation disorder caused by a deficiency of factor IX which results in bleeding problems.
  • Hemophilic arthropathy: Joint destruction associated with hemophilia. The knees, ankles, elbows, hip and shoulders are the most common joints involved. Symptoms are progressive and often surgical intervention is required to prevent total loss of joint function.
  • Hemorrhagic thrombocythemia: A rare blood disorder characterized by increased number of platelets in the blood which often results in an enlarged spleen, bleeding and blood vessel blockages.
  • Henoch-Schonlein purpura: A form of vasculitis (blood vessel inflammation) that affects blood capillaries and affects mostly the skin, kidneys, joints and stomach.
  • Heparin-induced thrombocytopenia: A blood disorder triggered by the use of the drug called heparin which is an anticoagulant. The severity of the condition is variable.
  • Hepatocellular jaundice: A condition which is characterized by jaundice due to injury or damage to the hepatocellular cells of the liver
  • Hepatorenal tyrosinemia: A rare genetic metabolic disorder characterized by a deficiency of particular enzymes which prevents the breakdown of tyrosine which then builds up in the liver. Type 1 involves a deficiency of the enzyme fumaril acetoacetate hydrolase.
  • Hereditary elliptocytosis: An inherited blood disorder where a significant number of red blood cells (erythrocytes) are elliptical or oval shaped rather than doughnut shaped. The condition is often asymptomatic but anemia can result when the abnormal red blood cells are destroyed.
  • Hereditary hyperuricemia: High levels of uric acid in the blood due to an inherited metabolic disorder which disrupts the normal metabolic processes involving purine consumed in the diet.
  • Hereditary macrothrombocytopenia: A rare inherited blood disorder where the blood platelets are abnormally large. Blood platelets are involved in the blood clotting process but patients with the condition often have no symptoms or suffer mild bleeding problems.
  • Hereditary methemoglobinemia, recessive: A rare inherited blood disorder where the hemoglobin (the oxygen-carrying part of red blood cells) can't bind with oxygen which impairs the oxygen supply to parts of the body, especially during exertion when more oxygen is needed by the body. Type I has enzyme deficiency (cytochrome B5 reductase) only in the red blood cells whereas in Type II the enzyme deficiency occurs in other body cells as well as red blood cells.

 

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