Public Health Genomics
Molecular Heterogeneity of Beta-Thalassemia in the United Arab EmiratesBaysal E.Dubai Genetic and Thalassemia Center, Al Wasl Hospital, Dubai, United Arab Emirates
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Article / Publication Details
Published online: March 10, 2005
Issue release date: March 2005
Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 3
ISSN: 1662-4246 (Print)
eISSN: 1662-8063 (Online)
For additional information: https://www.karger.com/PHG
Abstract
Theβ-thalassemia alleles in 313 national patients of the United Arab Emirates (UAE) have been characterized using PCR-based DNA-diagnostic techniques including DNA sequencing. A total of 212 patients had homozygous β-thalassemia and the remaining 101 were compound heterozygotes. More than half of the patients were homozygous for the IVS-I-5 (G→C) mutation followed by the sickle cell gene. The latter accounted for 25% of the chromosomes. In terms of frequency, five β-thalassemia mutations; IVS-I-5 (G→C), βS, –25 bp del, Cd 8/9 (+G) and IVS-II-1 (G→A) accounted for 83% of the alleles. In addition, 427 expatriate patients were studied: 256 with homozygous β-thalassemia and 171 were compound heterozygotes. In both the UAE nationals and expatriates, the β-thalassemia mutations and their frequency followed a similar trend. Our results indicate that the frequency of β-globin gene defects including β-thalassemia, sickle cell gene (βS) and abnormal hemoglobins is significantly increased and poses a major public health problem in the UAE. The number of homozygous patients strongly suggests a high degree of consanguinity among the UAE nationals. With 50 different β-thalassemia alleles, UAE is arguably the most heterogeneous population in the world. The diversity of these mutations reflects the historical admixture of genes and their migration from different areas in the region. Our data strongly suggest the need for a comprehensive thalassemia control program and provides a basis for population screening, genetic counseling and prenatal diagnosis.
© 2005 S. Karger AG, Basel
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References
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Article / Publication Details
Published online: March 10, 2005
Issue release date: March 2005
Number of Print Pages: 5
Number of Figures: 0
Number of Tables: 3
ISSN: 1662-4246 (Print)
eISSN: 1662-8063 (Online)
For additional information: https://www.karger.com/PHG
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