Research updates
7 - The sickling disease page 1
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1. Introduction Link to the Medical Research Council web site
Sickle cell anaemia is an inherited disease which can be extremely painful and debilitating. Scientists now have a clear understanding of the recessive mutation which results in synthesis of abnormal haemoglobin. Current research is directed at manipulating the activity of the haemoglobin genes. The quest to prevent sickle cell anaemia includes the implementation of screening programmes involving both prenatal and neonatal diagnosis and specialised counselling.

Figure 1
Figure 1. Having qualified in Malaysia, Dr Swee Lay Thein spent several years practising as a medical doctor in British hospitals, where she specialised in haematology. Dr Thein then took up full-time research and is presently a Senior Clinical Scientist in the MRC Molecular Haematology Unit in Oxford. As a member of Professor Weatherall's research team, Dr Thein heads a group of scientists who are researching the genetic factors that account for the variation in severity of haemoglobin disorders such as ß-thalassemia and sickle cell anaemia.
The inherited diseases of haemoglobin are the commonest single gene disorders. Sickle cell anaemia is a disease of malarial tropical areas: 1 - 4% of all babies born in East and West Africa suffer from the disease. It is also common in central India. Migration of these populations has resulted in sickle cell anaemia occurring sporadically throughout the Mediterranean and the Middle East, and with increasing frequency in other areas of the world. Currently in Britain, an estimated 5000 people suffer from sickle cell anaemia, most being of Afro-Caribbean origin.
Sickle cell anaemia ranges from a mild disorder to a crippling disease characterised by long term (chronic) anaemia which begins in infancy. Episodes of extreme pain and tissue damage occur known as crises. Crises may result in acute complications, such as lung failure or stroke.
A common cause of death in sickle cell anaemia sufferers of all ages is severe infection, babies and children being particularly prone to infection by Pneumococcus bacteria. Another cause of death is gross anaemia, which may result from distorted red blood cells becoming trapped in the tiny capillaries of the spleen.
This blockage of capillaries leads to the chronic complications of sickle cell anaemia affecting all organs, such as kidney failure, recurrent leg ulcers, infection and painful deformity of the shoulder and hip joints.
Sickle cell anaemia carries a very high mortality in the first two years of life in regions such as rural East and West Africa, where health care is minimal. Elsewhere, survival into adulthood is usual. However, when the future holds long term disability and recurrent life-threatening medical emergencies, what is the quality of life for a sufferer?
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