Uludag, A.Uysal, A.Uludag, A.Ertekin, Y. H.Tekin, M.Kutuk, B.Sılan, Fatma2025-01-272025-01-2720161311-0160https://doi.org/10.1515/bjmg-2016-0004https://hdl.handle.net/20.500.12428/25774The prevalence of beta-thalassemia (beta-thal) carriers in Turkey varies according to region but in general it is 2.0%. Canakkale is a city in the Aegean region of Turkey but no study about beta-thal frequency in Canakkale has been published to date. In this study, we aimed to investigate the frequency of beta-thal mutations in this province. A total of 4452 couples (8904 individuals) applied for premarital thalassemia scans at the Canakkale State Health Directorate Laboratory between January 2008 and June 2012 and scanning was done with high performance liquid chromatography (HPLC). Of 125 beta-thal carriers seen at the Medical Genetics Clinic, Canakkale Onsekiz Mart University, Canakkale, Turkey, for genetic counseling, 46 participated in the study. The remaining 79 patients could not be reached. The prevalence for beta-thal carriers in Canakkale was identified as 1.4% (125/8904). One couple were both beta-thal carriers. beta-Globin gene analysis of 46 carriers found the total frequency of the three most common mutations was 45.6%. These mutations were found to be HBB: c. 93-21G>A [IVS-I-110 (G>A)], 26.08% (12/46); HBB: c. 17_ 18delCT [codon 5 (-CT)], 10.85% (5/46); HBB: c. 20delA [codon 6 (-A)] 8.69% (4/46). This is the first report on the frequency and mutation profiles of beta-thal for Canakkale. The incidence of beta-thal carriers in Canakkale is below the average for Turkey. The most frequently observed mutation profile and rate of beta-thal in our region is different from the other regions of Turkey.eninfo:eu-repo/semantics/openAccessAbnormal hemoglobin (Hb)beta-Thalassemia (beta-thal)Premarital screeningPrevalenceArticle191293310.1515/bjmg-2016-0004Q4WOS:0003807563000042-s2.0-8498342871827785405Q4