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Article

Molecular defects in beta-thalassaemias in the population of Saudi Arabia.

Human heredity - 1 Jan 2000

el-Hazmi M A, al-Swailem A R, Warsy A S

Abstract excerpt

The beta-thalassaemias are a heterogeneous group of inherited disorders caused by mutations in and around the structural gene of the beta-chain of the adult haemoglobin (HbA). Studies at the gene level have identified a large number of beta-thalassaemia gene variations in different populations. These findings have implications for the use of molecular diagnosis for genetic counselling and prenatal detection of...

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PMID: 7590760
DOI: 10.1159/000154314

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