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Glossary for Myelodysplastic syndromes

  • 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.
  • Anisocytosis: Variation in red blood cell size, commonly seen in anaemia
  • Aplastic anemia: A blood disorder where the bone marrow produces insufficient new blood cells.
  • Blood conditions: Conditions that affect the blood
  • Bone Marrow Conditions: Medical conditions affecting the bone marrow
  • Bruising: Bleeding under skin leading to discoloration.
  • Chromosome 7, Monosomy: A rare chromosomal disorder where there is one copy of the genetic material in chromosome 7 rather than the normal two. The deletion of this chromosome if often associated with myelodysplastic syndromes and myeloid leukemia. The condition usually has a poor prognosis. Other defects may also be present in some cases.
  • Death: The cessation of life
  • Dizziness: Feelings of lightheadedness or giddiness.
  • Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
  • Fanconi pancytopenia: A rare genetic disorder characterized by upper limb defects and kidney abnormalities.
  • Fatigue: Excessive tiredness or weakness.
  • Fever: Elevation of the body temperature above the normal 37 degrees celsius
  • Folate deficiency: Inadequate consumption of folic acid to meet the body's needs. Folic acid is a naturally occurring vitamin found in green leafy vegetables, liver, yeast and mushrooms. Alcohol and excessive cooking can affect folic acid absorption. Some medications may also cause folic acid deficiency. Folate deficiency during pregnancy can result in neural tube defects in the infant.
  • Hyper IgM syndrome 4: Hyper IgM syndrome is a rare inherited immunodeficiency disorder which causes frequent infections involving the ears, eyes, sinuses, lungs, skin, respiratory tract and other areas of the body. Type 4 does not involve an increased risk of opportunistic infections and is caused by a defect on chromosome 4.
  • Miller-Dieker syndrome: A rare genetic disorder characterized by a smooth brain surface. The condition occurs because of deletion of genetic material from the short arm of chromosome 17 ath a particular location (17p13.3).
  • Neutropenia: Reduced number of granulocytes in the blood
  • Pancytopenia: A term used to describe a lack of all of the different types of blood cells - red and white blood cells and blood platelets. Cancer, infections and toxins are some of the causes of pancytopenia. Symptoms depend on the severity of the deficiency.
  • Platelet disorder, familial, with associated myeloid malignancy: A blood disorder associated with the development of leukemia. The disorder arises from a genetic mutation.
  • Splenomegaly: Enlarged spleen.
  • Thrombocytopenia: Decreased platelets in the blood
  • Thrombocytopenic purpura, autoimmune: A rare blood disorder where a low number of platelets impairs the bloods ability to clot and results in bleeding into the skin and mucous membranes.
  • Unusual facies, Myelodysplasia and immunodeficiency: A rare syndrome characterized mainly by an unusual facial appearance, myelodysplasia and immunodeficiency.
  • Vitamin B12 Deficiency: A deficiency of Vitamin B12 primarily causes anemias the body is unable to make sufficient quantities of normal red blood cells. Severe cases can lead to permanent nervous system problems. The vitamin B12 deficiency can result from absorption problems, insufficient dietary intake, certain medications (e.g. metformin), inherited conditions (e.g. transcobalamin deficiency) and certain chronic parasitic intestinal infestations.


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