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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).

Original publication

DOI

10.1016/s0950-3536(05)80068-x

Type

Journal article

Journal

Bailliere's clinical haematology

Publication Date

03/1993

Volume

6

Pages

117 - 150

Addresses

MRC Molecular Haematology Unit, Institute of Molecular Medicine, Headington, Oxford, U.K.

Keywords

Humans, Hydrops Fetalis, alpha-Thalassemia, Globins, Hemoglobins, Abnormal, Hemoglobin H, Gene Expression Regulation, Base Sequence, Consensus Sequence, Mutation, Multigene Family, Molecular Sequence Data, Intellectual Disability