PRESENTED AT THE INTERNATIONAL CONFERENCE ON HEMOGLOBIN DISORDERS, KUWAIT, February 5-7th, 2011 MOLECULAR BASIS OF β-THALASSEMIA IN THE UNITED ARAB EMIRATES

In an attempt to define the prevalence of β-thalassemia (β-thal) in the United Arab Emirates (UAE), we have conducted molecular studies on nearly 2000 randomly-selected adult UAE nationals. The results demonstrated that the prevalence of β-globin gene defects in the UAE was 8.5%. Among these anomalies were β-thal mutations, abnormal hemoglobin (Hb) variants, e.g., Hb S, Hb D-Punjab, Hb O-Arab, Hb C and Hb E. The sickle gene (β S or Hb S) contributed significantly to the molecular epidemiology of the hemoglobinopathies in the UAE. In this article, Hb S and other abnormal Hbs are excluded as they are comprehensively described by other contributors in this current issue. The molecular characterization and mutational analyses of all β-thal patients were carried out using current molecular techniques including amplification refractory mutation system (ARMS), restriction enzyme analysis (REA), dot-blot hybridization, β-strip hybridization, allelespecific oligonucleotide (ASO), polymerase chain reaction (PCR), gap-PCR and DNA Sequencing. Most of these techniques are now virtually obsolete. Almost all molecular characterizations are currently performed through PCR followed by DNA sequencing using a fully automated ABI PRISM TM 3130 Genetic Analyzer. Our molecular studies showed that the majority of the β-thal mutations in the UAE are very severe; the most common allele was the IVS-I-5 (G>C). Although this allele is a β + -thal, its phenotype is very severe. All other mutations are also severe β 0 -thal. High frequency of moderate or severe β-thal mutations have implications in the wide spectrum of clinical manifestations seen in patients whose phenotypes vary from β-thal intermedia (β-TI) to severe transfusion-dependent β-thal major (β-TM).