Molecular characterization of beta-thalassemia in Azerbaijan

Hum Genet. 1992 Dec;90(4):417-9. doi: 10.1007/BF00220470.

Abstract

We have analyzed the beta-thalassemia mutations in 99 chromosomes of 49 adults with beta-thalassemia major and of one with Hb S-beta-thalassemia, who are regular patients at a large hematology clinic in Bakü, Azerbaijan. A total of 20 different mutants were identified; three [frameshift at codon 8 (-AA); IVS-II-I (G-->A); IVS-I-110 (G-->A)] were present in about two-thirds of all chromosomes. Most alleles are the same as found in Mediterranean populations; a few have an Asian origin or come from Kurdistan, Lebanon, Saudi Arabia, or a black population. One mutant [frameshift at codons 82/83 (-G)] might be specific for the Azerbaijanian population. Nearly all patients were transfused, which made quantitation of Hb F impossible; high G gamma values were present in the Hb F of those patients whose beta-thalassemia chromosome carried the C-->T mutation at position -158 in the promoter of the G gamma-globin gene.

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Azerbaijan
  • Codon
  • Gene Frequency
  • Haplotypes
  • Heterozygote
  • Homozygote
  • Humans
  • Mutation
  • beta-Thalassemia / genetics*

Substances

  • Codon