Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation. (August 2015)

• Record Type: Journal Article
• Authors: Ozkinay, Ferda; Onay, Huseyin; Karaca, Emin; Arslan, Esra; Erturk, Biray; Ece Solmaz, Asli; Tekin, Ismihan Merve; Cogulu, Ozgur; Aydinok, Yeşim; Vergin, Canan
• Is Part Of: Hemoglobin. Volume 39:Number 4(2015)
• Page Start: 230
• Page End: 234
• Publication Date: 2015-08
• Subjects: Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• Languages: English
• ISSNs: 0363-0269

Abstract

<abstract> <title>Abstract</title> <p>β-Thalassemia (β-thal) is the most common monogenic disorder in Turkey. The aim of this study was to investigate the spectrum of β-thal mutations in the Aegean region of Turkey. The data was derived from 1171 unrelated β-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 β-thal alleles were identified. Seven mutations, namely IVS-I-110 (G &gt; A) (41.7%), IVS-I-1 (G &gt; A) (8.9%), IVS-II-745 (C &gt; G) (8.6%), codon 8 (–AA) (7.7%), IVS-II-1 (G &gt; A) (7.2%), IVS-I-6 (T &gt; C) (6.6%), codon 39 (C &gt; T) (4.6%) accounted for 85.3% of the mutated alleles. Frequencies of the remaining 24 β-thal mutations were less than 2.2%; these included one novel mutation [<italic>HBB</italic>: c.206_212del (p.Leu69Profs*19)], and four others [–56 (G &gt; C), codon 16 (–C), IVS-I (–3) (C &gt; T) (codon 29), codon 76 (–C)] found in Turkey for the first time. The results will help to prevent severe β-thal through genetic counseling and prenatal diagnosis (PND) in the Aegean region of Turkey.</p> </abstract>