THE SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN THE UAE NATIONAL-POPULATION

The beta thalassaemia alleles in 50 beta thalassaemia heterozygotes or iginating from many parts of the United Arab Emirates (UAE) have been characterised using the allele specific priming technique of the polym erase chain reaction (PCR). The IVSI-5 (G --> C) mutation was found to be present in 66%, while six other alleles occurred at the much lower frequencies of 2% to 8%. These were codon 8/9 (+G), IVSI-1, 3' end (- 25 bp), codon 5 (-CT), IVSII-1 (G --> A), codon 30 (G --> C), and codo n 15 (G --> A). The mutation types and percentages are compared with o ther Mediterranean Arab countries and neighbouring areas. It is propos ed that IVSI-5 and other Asian Indian mutations were introduced into t he UAE by population migration from the region previously known as Bal uchistan. These findings should be useful for genetic counselling and the development of a first trimester prenatal diagnosis programme base d on direct detection of mutations in the UAE.