BETA-THALASSEMIA ALLELES IN AEGEAN REGION OF TURKEY - EFFECT ON CLINICAL SEVERITY OF DISEASE

Beta (beta) globin gene analysis teas performed in 54 homozygous beta- thalassemia patients followed up in the Pediatric Hematology Departmen t of Medical School of Ege University. The spectrum of beta-thalassemi a alleles and their effect on clinical severity of disease were invest igated. Twelve different mutations were determined in our patients. Th e six most frequent alleles, IVSI-110 (G-A), IVSI-6 (T-C), IVSI-I (G-A ), IVSII-745 (C-G), Cd39 (C-T), and FSC8, account for 80.6% of all the disease genes. Eleven percent of the chromosomes could not be identif ied with the probes used in this study. In 38 patients both of whose b eta-thalassemia alleles were identified, the beta-thalassemia alleles were found to be the major determinant of the clinical severity of dis ease. The clinical progress of disease was also closely related to the deg? ee of iron overload.