title: Molecular heterogeneity of beta-thalassemia in the United Arab Emirates.
abstract: The beta-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 beta-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 beta-thalassemia mutations; IVS-I-5 (G-->C), betaS, -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 beta-thalassemia and 171 were compound heterozygotes. In both the UAE nationals and expatriates, the beta-thalassemia mutations and their frequency followed a similar trend. Our results indicate that the frequency of beta-globin gene defects including beta-thalassemia, sickle cell gene (betaS) 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 beta-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.
authors.affiliation: Dubai Genetic and Thalassemia Center, Al Wasl Hospital, Dubai, United Arab Emirates. emerinah@emirates.net.ae
authors.forename: E
authors.initials: E
authors.lastname: Baysal
mesh_terms: D004252:DNA Mutational Analysis; D005817:Genetic Counseling; D005820:Genetic Testing; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D016133:Polymerase Chain Reaction; D014479:United Arab Emirates; D017086:beta-Thalassemia / Q000235:genetics*