Molecular genetics of beta-thalassaemia in Pakistan: a basis for prenatal diagnosis.

Abstract excerpt

Thalassaemia is the most common inherited disorder in Pakistan and there are very inadequate treatment facilities for over 4000 homozygotes born each year. Prevention of these disorders therefore forms an essential part of the management of this enormous health problem. We have characterized 1216 beta-thalassaemia alleles from the five major ethnic groups of Pakistan. The complete spectrum comprised 19 different...

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