THE SPECTRUM OF BETA-THALASSEMIA MUTATIONS IN THE LEBANON

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, follo wed by DNA sequencing. In total, 16 different mutations were detected, the most frequent being IVSI-110 (40%), followed by other common Medi terranean mutations (IVSI-1, IVSII-1, IVSI-6). Other mutations detecte d were of Lebanese, Turkish, Iranian, Kurdish, Bulgarian and Asian Ind ian origin. The most heterogeneous religious group seems to be the Sun ni Muslims, with 13 mutations, while only 2 mutations were detected am ong the Christian Maronites. Results from this study are compared with those from other Mediterranean and neighbouring countries.