The spectrum of beta-thalassaemia mutations in the Lebanon

Hum Hered. 1997 Sep-Oct;47(5):241-9. doi: 10.1159/000154419.

Abstract

We screened 110 DNA samples from carriers of beta-thalassaemia, using the ARMS-PCR technique with primers for common Mediterranean mutations. Unidentified samples were subjected to a heteroduplex analysis with Universal Heteroduplex Generators covering the beta-globin gene, followed by DNA sequencing. In total, 16 different mutations were detected, the most frequent being IVSI-110 (40%), followed by other common Mediterranean mutations (IVSI-1, IVSII-1, IVSI-6). Other mutations detected were of Lebanese, Turkish, Iranian, Kurdish, Bulgarian and Asian Indian origin. The most heterogeneous religious group seems to be the Sunni Muslims, with 13 mutations, while only 2 mutations were detected among the Christian Maronites. Results from this study are compared with those from other Mediterranean and neighbouring countries.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Community Medicine / classification
  • Community Medicine / statistics & numerical data
  • DNA Mutational Analysis
  • Female
  • Gene Frequency
  • Humans
  • Lebanon / epidemiology
  • Male
  • Mutation*
  • Prevalence
  • Religion
  • beta-Thalassemia / epidemiology*
  • beta-Thalassemia / genetics*