Baillieres Clin Haematol. 1993 Mar;6(1):117-50. doi: 10.1016/s0950-3536(05)80068-x.


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).

Publication types

  • Review

MeSH terms

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


  • Hemoglobins, Abnormal
  • Globins
  • Hemoglobin H
  • hemoglobin Bart's