Beta-Thalassemia Alleles in Aegean Region of Turkey: Effect on Clinical Severity of Disease
Articles > Article · 1997
Authors: G NISLI, Ramazan Kaan KAVAKLI, Yeşim AYDINOK, S OZTOP, NAZAN ÇETİNGÜL
Pediatric Hematology and Oncology, Journal Indexed in SCI Expanded, International, WoS, 1997, vol 14, pp 59-65
DOI: 10.3109/08880019709030885
Summary
Beta (beta) globin gene analysis was performed in 54 homozygous beta-thalassemia patients followed up in the Pediatric Hematology Department of Medical School of Ege University. The spectrum of beta-thalassemia alleles and their effect on clinical severity of disease were investigated. Twelve different mutations were determined in our patients. The 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 identified with the probes used in this study. In 38 patients both of whose beta-thalassemia alleles were identified, the beta-thalassemia alleles were found to be the major determinant of the clinical severity of disease. The clinical progress of disease was also closely related to the degree of iron overload.