5 α-Thalassaemia

Abstract

The large number of naturally occurring mutants of this well-characterized locus provides an excellent opportunity for elucidating the relationship between its structure and function. Comparisons of what has been learned about the alpha-globin locus with complementary observations on the beta-globin locus, provide a strategy for understanding the co-ordinate regulation of eukaryotic gene expression. From a practical point of view it is important to remember that millions of individuals throughout the world are carriers of alpha-thalassaemia and every year many thousands of pregnancies are at risk of producing children with the severe alpha-thalassaemia syndromes. The data summarized here provide the basis for accurately predicting the genotype in such cases and thus enabling appropriate prenatal testing. However, because this is a genetic disease that predominantly affects individuals from countries with limited health resources, simpler and cheaper methods of screening and diagnosis will have to be developed before this information has a significant impact on the attendant morbidity and mortality (see Chapter 9, this volume).