الفهرس 
Introduction and Aim of WorkOnly 14 pages are availabe for public view
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Abstract
B-thalassaemia refers to group of inherited disorders characterized by a reduced of B-globin chains, affecting around 7% of the words population being prevalent in tropical and subtropical regions including the Mediteranean, Southeast Asia and Siuthern China. The aim of this study was to characterize B-thalassaemia mutations, both as well as rare among Egyptian B-thalassaemia children. Incorporation of DNA sequencing in Egypt for the frist time enable the characterization of mutations not detected by mutation specific detection procedures was a prime concern of this work. An atterpt to understand the B-thalassaemia sperctrum in Egypt to be the base of carrier screening and prenatal diagnosis programs is and important goal of this study. Sixty eight subjects were studied, gene mutations by allele specific priming (PCR-ARMS). Uncharacterized samples were subjected to automated fluorescent direct DNA sequenucing of products. The commonest B-thalassaemia mutation among studied cases was IVSI-6 mutation accounting for 31.2% followed by the IVSI-110 mutation which accounted for 30.0% then the IVSI-1 mutation 16.3% less common mutation detected were 87 accounting for 2.5% the IVSI-745 accounting for 6.3% the Hb Knossos (CD27) mutations each accounting for 3.8% IVSII-848 was 2.5%. the least common mutations were CD5. CD39,CD37 each accounting for 1.3% and rare the very rate mutation CD15 accounting for 1.3% tow sickle/B-thalassaemia (2.5%). In conclusion the use of PCR ampilication and direct sequencing have permitted the accurate characterization for unidentified alleles and successfully solved 100% if the examined samples.