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What are the causes and treatment for sideroblastic anaemia?

Q: What is sideroblastic anaemia? What will happen if it increases? What is the treatment for sideroblastic anaemia?

A:The sideroblastic anaemias are a heterogeneous group of disorders characterised by biochemical defects affecting heme biosynthesis. Heme is a part of the haemoglobin molecule (the protein which carries oxygen in the blood). The heme molecule contains an iron atom that helps bind oxygen. Sideroblastic anaemias show the presence of ring sideroblasts in the bone marrow (abnormal red blood cell precursors having excessive amount of iron) and faulty synthesis of heme. The basic defect lies in a cell organelle called mitochondrion where synthesis of heme takes place. These anaemias may be hereditary or acquired with acquired sideroblastic anaemias far exceeding the hereditary types. Most hereditary sideroblastic anaemias present in childhood though some milder forms are detected only in adults when the condition becomes symptomatic. Acquired varieties may be due to - a) Myelodysplasia - a group of disorders in which there is dysfunction of the hematopoietic stem cell; b) Drugs and toxins - alcohol abuse, INH, chloramphenicol, cycloserine, busulfan, lead, zinc; c) Nutritional disorders - pyridoxine deficiency, copper deficiency and other rare causes. The anaemia tends to be moderate to severe (haemoglobin - 4 to 10g/dl) and patients have the symptoms of anaemia like fatigue, breathlessness, decreased tolerance to physical activity, and dizziness. Treatment involves excluding any reversible cause (including alcohol or other drug toxicity or exposure to toxins) and is primarily supportive. Repeated blood transfusions are given so that the patient is asymptomatic. A trial of pyridoxine is also given as many patients improve with it. You need to consult a clinical hematologist and most major hospitals in metros have a department of haematology.

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