A review of the molecular diagnosis of thalassemia.

Abstract excerpt

The thalassaemias are a major health problem, and approximately 1 in 14 of the population are carriers for one of the sub types. For the purpose of prevention and control of clinically severe disease, molecular diagnosis either pre-natally or ante natal with genetic counselling are increasingly important. The majority of mutations causing the thalassaemias have now been characterised and a small number of common...

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