A wider molecular spectrum of beta-thalassaemia in Myanmar

Br J Haematol. 2002 Jun;117(4):988-92. doi: 10.1046/j.1365-2141.2002.03539.x.

Abstract

Two hundred and nine beta-thalassaemia (beta-Thal) alleles of 158 unrelated Myanmar patients (107 HbE-beta-Thal; 51 beta-Thal major) were analysed for beta-globin gene mutations. Amplification refractory mutation system (ARMS) characterized six beta-thal mutations known to Myanmar [betaIVSI-1(G-->T), codon 41/42(-TCTT), betaIVSI-5(G-->C), codon 17(A-->T), betaIVS II-654(C-->T), and -28 Cap (A-->G)] in 166/209 (79.4%) alleles. DNA sequencing of 24 alleles from 43 ARMS-negative samples (20.6%) identified an additional 12 new mutations, to produce a total of 18 different mutations. Nineteen alleles (9.1%) remained for further characterization. The molecular spectrum of Myanmar beta-Thal is wider and more heterogeneous than previously reported.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alleles
  • Asia / ethnology
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Globins / genetics*
  • Heterozygote
  • Humans
  • Infant
  • Mutation*
  • Myanmar
  • beta-Thalassemia / ethnology
  • beta-Thalassemia / genetics*

Substances

  • Globins