Negro alpha-thalassaemia is caused by deletion of a single alpha-globin gene

Lancet. 1979 Aug 11;2(8137):272-6. doi: 10.1016/s0140-6736(79)90290-3.

Abstract

Studies in two Jamaican Negro families, including haematological and haemoglobin analysis, haemoglobin synthesis, and globin messenger-RNA assay, have defined two alpha-thalassaemia phenotypes which resemble the severe (alpha-thalassaemia 1) and mild (alpha-thalassaemia 2) forms of the disorder described in Orientals. Genetic analysis suggests that subjects with the alpha-thalassaemia-1 phenotype are homozygous for the alpha-thalassaemia-2 determinant. Restriction-endonuclease mapping shows that alpha-thalassaemia-2 results from the deletion of one of the linked pair of alpha-chain genes. Hence the genotypes of the alpha-thalassaemia heterozygotes and homozygotes in these families are -alpha/alpha alpha and -alpha/-alpha respectively. If these are the usual alpha-thalassaemia genotypes in Negroes, these findings explain the difference in clinical expression of the disorder between Orientals and Negroes--in particular, the absence of haemoglobin Bart's hydrops and the rarity of haemoglobin-H disease in Negroes.

MeSH terms

  • Black People
  • Chromosome Deletion*
  • Chromosomes, Human, 16-18
  • DNA Restriction Enzymes
  • Female
  • Genes
  • Globins / biosynthesis
  • Globins / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Pedigree
  • Phenotype
  • RNA, Messenger / biosynthesis
  • Thalassemia / genetics*

Substances

  • RNA, Messenger
  • Globins
  • DNA Restriction Enzymes