Five haplotypes in Black beta-thalassaemia heterozygotes: three are associated with high and two with low G gamma values in fetal haemoglobin

Br J Haematol. 1985 Feb;59(2):333-42. doi: 10.1111/j.1365-2141.1985.tb02998.x.

Abstract

Genotypes at seven different polymorphic restriction sites (5' to the epsilon gene, at the G gamma, at the A gamma, at the psi beta, 3' to the psi beta, at the beta, and 3' to the beta genes) were analysed by restriction endonuclease mapping of the DNA from 66 Black beta-thalassaemia heterozygotes from Georgia and several of their normal relatives. Five different haplotypes were observed. Three of these were associated with high G gamma values in the small amount of Hb F (0.8-8.3%) present in the blood of these patients and two with low G gamma values. One haplotype [- + - + + + +] that occurred on two of every three beta thalassaemia chromosomes was associated with high G gamma levels, and is the same as that found in some Black SS patients also having high G gamma values (Gilman & Huisman, 1984). Two others [- + + - + - +] and [- + - - + + +] were also associated with high G gamma, while two [- - - - + + +] and [+ - - - - + +] were associated with low G gamma. Variation in haematological data, mainly MCV and MCH values, was found to be caused in part by the type of beta-thalassaemia (defined by its haplotype) and by the presence of an additional alpha-thalassaemia-2 heterozygosity or homozygosity.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Black People*
  • Chromosome Mapping
  • DNA Restriction Enzymes
  • Erythrocyte Indices
  • Female
  • Fetal Hemoglobin / genetics*
  • Gene Frequency
  • Genotype
  • Heterozygote
  • Humans
  • Male
  • Pedigree
  • Thalassemia / blood
  • Thalassemia / genetics*

Substances

  • Fetal Hemoglobin
  • DNA Restriction Enzymes