Compound heterozygosity for Hb S [beta6(A3)GluVal, GAG-->GTG] and a new thalassemic mutation [beta132(H10)Lys-->term, AAA-->TAA] detected in a family from West Africa

Hemoglobin. 2008;32(3):309-13. doi: 10.1080/03630260701758866.

Abstract

We describe a Hb S/beta-thalassemia (beta-thal) mutation involving an AT transition at codon 132 of the beta-globin gene. The mutation, in the heterozygous state, unlike several other mutations in exon 3, shows no signs of dominant thalassemia but those of a typical beta(0) carrier. Compound heterozygosity with Hb S [beta6(A3)GluVal, GAGGTG] showed a severe clinical picture.

MeSH terms

  • Africa, Western
  • Codon / genetics*
  • Exons / genetics*
  • Family
  • Female
  • Hemoglobin, Sickle / genetics*
  • Heterozygote*
  • Humans
  • Male
  • Mutation / genetics*
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • Hemoglobin, Sickle