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Beta-Thalassaemia prototype of a single gene disorder with multiple phenotypes
International Journal of Hematology, 10/12/09

Thein SL – As the defective genes for more and more genetic disorders become unravelled, it is clear that patients with the same genotype can have many different clinical conditions even in monogenic disorders. This article reviews the clinical and haematological diversity encountered in beta thalassaemia and their relationship with the under–lying genotypes.

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