Incidence of Hb Barts and alpha-thalassaemia genotypes in a South African population

Acta Haematol. 1985;73(3):159-62. doi: 10.1159/000206310.

Abstract

The cord blood of 1,207 randomly selected neonates from the Cape Coloured population of South Africa was analysed for the presence of Hb Barts. 40 individuals (3.3%) had detectable Hb Barts levels with values ranging from 1.1 to 7.3%. Restriction enzyme analysis of DNA from subjects with Hb Barts showed that 85% of the cases studied had the genotypes -alpha 3.7/alpha alpha or -alpha 3.7/-alpha 3.7. The observed frequency of the -alpha/alpha alpha genotype was much lower than the expected frequency which suggests that this genotype is often not associated with detectable levels of Hb Barts. Mapping of the sigma-globin locus in three subjects with HbH disease revealed the presence of the--SEA/alpha-thalassaemia determinant in this population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / genetics
  • Fetal Blood / analysis
  • Genotype
  • Globins / genetics
  • Hemoglobins, Abnormal / analysis*
  • Hemoglobins, Abnormal / genetics
  • Humans
  • Infant, Newborn
  • South Africa
  • Thalassemia / epidemiology*
  • Thalassemia / genetics

Substances

  • Hemoglobins, Abnormal
  • Globins
  • DNA
  • hemoglobin Bart's