Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation

Abstract

beta-Thalassemia (beta-thal) is the most common monogenic disorder in Turkey. The aim of this study was to investigate the spectrum of beta-thal mutations in the Aegean region of Turkey. The data was derived from 1171 unrelated beta-thal subjects detected in a regional reference hospital between November 2004 and December 2013. Screening for the 22 common mutations was performed using the polymerase chain reaction (PCR)-reverse dot-blot method and direct automated DNA sequencing for the unknown samples. Thirty-one different beta-thal alleles were identified. Seven mutations namely IVS-I-110 (G>A) (41.7%) IVS-I-1 (G>A) (8.9%) IVS-II-745 (C>G) (8.6%) codon 8 (-AA) (7.7%) IVS-II-1 (G>A) (7.2%) IVS-I-6 (T>C) (6.6%) codon 39 (C>T) (4.6%) accounted for 85.3% of the mutated alleles. Frequencies of the remaining 24 beta-thal mutations were less than 2.2%, these included one novel mutation [HBB: c. 206_ 212del (p. Leu69Profs* 19)] and four others [-56 (G>C) codon 16 (-C) IVS-I (-3) (C>T) (codon 29) codon 76 (-C)] found in Turkey for the first time. The results will help to prevent severe beta-thal through genetic counseling and prenatal diagnosis (PND) in the Aegean region of Turkey.