The phenotypic diversity of monogenic disease: lessons from the thalassemias.

Abstract excerpt

Clearly, the thalassemias are associated with a remarkably diverse series of phenotypes. Much of this heterogeneity can be explained at the molecular level by variability of the primary mutation of the beta globin genes, and the effects of genetic variability at two other loci, that is the alpha and gamma gene loci. When all these factors are taken into consideration there still remains a considerable amount of...

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