Molecular genetics of beta-thalassaemia syndrome in Pakistan

East Mediterr Health J. 2010 Sep;16(9):972-6.

Abstract

This molecular genetics study was conducted in Karachi, Pakistan from 2004 to 2006 to provide guidelines for prenatal diagnosis programmes in the country. Blood samples of patients with beta-thalassaemia minor (n=200) and beta-thalassaemia major (n=150) were collected from hospitals, transfusion centres and diagnostic laboratories from different districts of Karachi, representing 5 major ethnic groups. Molecular analysis revealed 11 genetic mutations of the beta-thalassaemia gene, among which 5 mutations accounted for 88% of the total beta-thalassaemia genes identified [IVS-1-5 (G-C), Fr 8/9 (+G), Fr 41/42 (-TTCT), IVS-1-1 (G-T) and Del 619]. Other mutations identified were: CAP+1 IVS-II-1 (G-A), Cd 5 (-CT), Cd 15 (G-A). Cd 16 and Cd 30.

MeSH terms

  • Blood Banks
  • Consanguinity
  • DNA Mutational Analysis / methods
  • Emigration and Immigration / statistics & numerical data
  • Gene Frequency / genetics
  • Genetics, Population
  • Heterozygote
  • Humans
  • Molecular Epidemiology / methods
  • Mutation / genetics*
  • Pakistan / epidemiology
  • Polymerase Chain Reaction
  • Practice Guidelines as Topic
  • Prenatal Diagnosis / methods
  • Prenatal Diagnosis / standards
  • Urban Health / statistics & numerical data
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / ethnology*
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / prevention & control