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What is sickle cell anaemia and how to treat it?

Q: I have one son who is five years old. One day he complianed of leg pain and the doctor advised to test for sickle cell and and get hemoglobin electrophoresis done. The report came positive and and electrophoresis showed SS pattern. Please tell me the treatment for the same. Is there any treatment, which can cure this disease permanently, if yes, where should we go? I have Hb AS.

A:Sickle cell anaemia is an inherited disease of the blood, which is characterised by chronic anaemia and periodic episodes of pain. It is caused by an error (mutation) in the gene that controls haemoglobin synthesis. The mutation leads to synthesis of sickle haemoglobin (Hb S) instead of normal adult haemoglobin (Hb A) resulting in deformed (sickle-shaped) red blood cells. Two genes regulate haemoglobin synthesis. If an individual inherits copies of the defective gene from both parents, he/she will have sickle cell anaemia while individuals inheriting only one defective sickle haemoglobin gene from one parent will not have the disease, but will carry the sickle cell trait. Individuals with sickle cell trait generally have no symptoms, but they can pass the sickle haemoglobin gene on to their children. Please get your wife tested to know her haemoglobin status as she may be a carrier of the sickle/beta-thalassaemia/Hb C gene as Hb S/S, Hb S/beta O-Thal, Hb S/C often have similar symptoms. Patients with sickle cell anaemia may present with several complications whose clinical severity varies. Treatment is aimed at preventing these. Common among them are: a) Anaemia – Usually chronic as the bone marrow is unable to compensate for the red cell destruction, interspersed with episodes of acute anaemia due to aplastic crisis, splenic sequestration etc. These are often emergencies and need to be tackled promptly. b) Infection – Due to damage to the spleen, children are extremely prone to infection involving lungs, bones, brain etc. c) Pain – Commonest symptom of the disease involving small bones of the hand and feet initially followed by involvement of the long bones. It is treated with chronic blood transfusion, which maintains Hb S <30% and hydroxyurea. d) Acute chest syndrome, e) Stroke, f) Gall bladder disease, g) disease involving the hip joint and h) persistent painful erection (in males). You need to consult a pediatric haematologist who can explain the importance of immunization, handling fever and other problems like pain, use of prophylactic penicillin, etc. This can be done in most major government and private hospitals. Cure is possible by bone marrow transplant but this too has many attendant problems as your doctor will explain.

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