alpha-Thalassaemia.
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).
Higgs
D R
DR
MRC Molecular Haematology Unit, Institute of Molecular Medicine, Headington, Oxford, U.K.
D001483:Base Sequence; D016384:Consensus Sequence; D005786:Gene Expression Regulation; D005914:Globins / Q000235:genetics; D006447:Hemoglobin H / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics; D008969:Molecular Sequence Data; D005810:Multigene Family; D009154:Mutation; D017085:alpha-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D005914:Globins; D006447:Hemoglobin H; C030448:hemoglobin Bart's