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

OZKINAY F. F. , ONAY H. , KARACA E. , ARSLAN E., ERTÜRK B., Solmaz A. E. , ...More

HEMOGLOBIN, vol.39, no.4, pp.230-234, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 4
  • Publication Date: 2015
  • Doi Number: 10.3109/03630269.2015.1038354
  • Title of Journal : HEMOGLOBIN
  • Page Numbers: pp.230-234
  • Keywords: beta-Thalassemia (beta-thal), beta-globin gene, mutation spectrum, thalassemias, PREVALENCE, PROVINCE, TRAIT


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.