MRC Research Updates. The sickling disease. Research updates 7 - The sickling disease page 1 1. Introduction 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. 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. The inherited diseases of haemoglobin are the commonest single gene disorders. It is also common in central India.