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Blackfan Diamond anemia is a condition where the bone marrow produces little to no red blood cells. It is present in about 600-700 people worldwide. There is no known cause but genetic faults in Chromosome 19 is a factor in roughly 25% of cases and genetics is a factor in about 10-20% of cases. One-third of affected children have physical defects such as hand deformities or heart defects but the symptoms are quite undefined and can range from mild to life-threatening. Some general symptoms include anemia, pale appearance, irregular heartbeat, fatigue, irritability and fainting. Diagnosis usually occurs in the first two years or even at birth if the baby starts to immediately suffer from shortness of breath and looks very pale. Steroid treatment such as prednisone is usually the first step of the treatment which helps about 70% of patients start to produce more red blood cells. This then means lifelong steroid use and the risk of associated side effects such as diabetes, glaucoma, bone weakening and high blood pressure. The medications effectiveness may stop at any time without warning. The second treatment if steroids fail is regular blood transfusions which has the side effect of excess build up of iron which then needs to be treated with other medication. Bone marrow is the only chance of a cure but it is difficult and sometimes doesn't work. Bone marrow transplant is usually only undertaken by those where all other treatment methods fail.
Source: summary of medical news story as reported by About
About: About Blackfan Diamond anemia
Date: 23 December 2004
Author: Mary Kugler
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