title: The spectrum of beta-thalassaemia mutations in the Lebanon.
abstract: We screened 110 DNA samples from carriers of beta-thalassaemia, using the ARMS-PCR technique with primers for common Mediterranean mutations. Unidentified samples were subjected to a heteroduplex analysis with Universal Heteroduplex Generators covering the beta-globin gene, followed by DNA sequencing. In total, 16 different mutations were detected, the most frequent being IVSI-110 (40%), followed by other common Mediterranean mutations (IVSI-1, IVSII-1, IVSI-6). Other mutations detected were of Lebanese, Turkish, Iranian, Kurdish, Bulgarian and Asian Indian origin. The most heterogeneous religious group seems to be the Sunni Muslims, with 13 mutations, while only 2 mutations were detected among the Christian Maronites. Results from this study are compared with those from other Mediterranean and neighbouring countries.
authors.affiliation: Department of Laboratory Medicine, American University of Beirut, Lebanon. lailaz@aub.edu.lb
authors.forename: L
authors.initials: L
authors.lastname: Zahed
authors.forename: R
authors.initials: R
authors.lastname: Talhouk
authors.forename: M
authors.initials: M
authors.lastname: Saleh
authors.forename: R
authors.initials: R
authors.lastname: Abou-Jaoudeh
authors.forename: C
authors.initials: C
authors.lastname: Fisher
authors.forename: J
authors.initials: J
authors.lastname: Old
mesh_terms: D003154:Community Medicine / Q000145:classification / Q000706:statistics & numerical data; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007861:Lebanon / Q000453:epidemiology; D008297:Male; D009154:Mutation; D015995:Prevalence; D012067:Religion; D017086:beta-Thalassemia / Q000453:epidemiology* / Q000235:genetics*