A review of the molecular genetics of the human α-globin gene cluster

Abstract

The large number of naturally occurring mutants of this well characterized locus provide an excellent opportunity for elucidating the relationship between its structure and function. Comparisons of what has been learned about the α-globin locus with complementary observations on the β-globin locus, provide a strategy for understanding the coordinate 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 α-thalassemia and every year many thousands of pregnancies are at risk of producing children with the severe α-thalassemia 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.