Anemia; Sideroblastic, 2, Pyridoxine-Refractory

OMIM number: 205950

Comments closing date: 17/09/2025

Sideroblastic anaemia is a disorder where the body produces enough iron but is unable to put it into the haemoglobin. A sideroblast is a cell in which there is an abnormally large build up or iron. Symptoms include weakness, fatigue and difficulty in breathing. The build up of iron in the body can cause an enlarged spleen or liver, and abnormal heart rhythms. Symptom onset is from birth or infancy. There are various drugs that are used to treat sideroblastic anaemia but this type is not responsive to pyridoxine. Blood transfusions on a 2-8 week schedule are used to treat the condition. All patients surviving early childhood develop secondary iron overload and require iron chelation using medication like deferoxamine. Bone marrow transplant has been curative for some patients. Cause of death has been cardiomyopathy after poor compliance with chelation, sepsis, thrombotic event post splenectomy.

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