Sickle cell anaemia

An inherited blood disease in which the red blood cells contain haemoglobin S, an abnormal type of haemoglobin. This crystallizes in the capillaries, making red cells sickle-shaped and fragile, and leading to haemolytic anaemia. The abnormal cells are unable to pass easily through tiny blood vessels. The blood supply to organs is blocked intermittently, causing sickle cell crises. The disease affects mainly black people. Symptoms usually appear after age 6 months, often beginning with painful swelling of the hands and feet. Chronic haemolytic anaemia causes fatigue, headaches, shortness of breath on exertion, pallor, and jaundice. Sickle cell crises start suddenly; they are sometimes brought on by an infection, cold weather, or dehydration, but may also occur for no apparent reason. The sufferer may experience pains (especially in the bones), blood in the urine (from kidney damage) or damage to the lungs or intestines. If the brain is affected, seizures, a stroke, or unconsciousness may result. In some affected children, the spleen enlarges and traps red cells at a particularly high rate, causing a life-threatening form of anaemia. After adolescence, the spleen usually stops functioning, increasing the risk of infection in those affected. Diagnosis is made from examination of a blood smear and electrophoresis. Supportive treatment may include folic acid supplements, and penicillin and immunization to protect against infection. Life-threatening crises are treated with intravenous infusions of fluids, antibiotics, oxygen therapy, and analgesic drugs. If the crisis still does not respond, an exchange blood transfusion may be performed. This may be done regularly for people who suffer frequent severe crises.