Molecular Characterization of β-Thalassehia in the United Arab Emirates

Abstract

This study is to identify the various β-thalassemic alleles in the United Arab Emirates (UAE), and compare them with the UAE residents from neighboring countries suffering from the same problem. Gene amplification, dot-blot hybridization with synthetic probes, restriction enzyme analyses, and sequencing were the tools used. Thirteen different mutations were observed in the UAE patients and seventeen mutations in the non-locals. The IVS-I-5 (G→C) Asian Indian mutation was the most frequent mutation in both groups. Homotygous mutations in both groups were relatively higher than double heterozygous mutations.