title: The spectrum of β-thalassemia mutations in Hatay, Turkey: reporting three new mutations.
abstract: β-Thalassemia (β-thal) is an important health problem in Hatay, Southern Turkey, because of its high carrier frequency and the frequency of consanguinity. The aim of this study was to reveal the spectrum of β-thal mutations and to provide a foundation for prenatal genetic testing that will be a part of an effective prevention program for β-thal disease in Hatay. We determined the spectrum of β-thal mutations in 93 unrelated affected patients. Using a direct sequencing method, we identified a large number of β-thal mutations. We found different results from other parts of Turkey. A total of 16 different β-thal mutations were characterized in the parents. The most common mutations were: IVS-I-110 (G>A), IVS-I-6 (T>C), IVS-I-1 (G>A), frameshift codon (FSC) 8 (-AA), codon 39 (C>T) and IVS-II-745 (C>G). Since our region has seen many Syrian and Iraqi immigrants, we report that the prevalence of the thalassemia traits are different from other regions of Turkey. Our study demonstrates the spectrum of β-thal mutations in the Hatay region, and that there was great molecular heterogeneity.
authors.affiliation: Department of Medical Genetics, Medical School, Mustafa Kemal University , Hatay , Turkey .
authors.forename: Ozgur
authors.initials: O
authors.lastname: Aldemir
authors.forename: Muzeyyen
authors.initials: M
authors.lastname: Izmirli
authors.forename: Hasan
authors.initials: H
authors.lastname: Kaya
mesh_terms: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D003062:Codon; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D056726:Genetic Association Studies; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D017354:Point Mutation; D014421:Turkey; D055544:beta-Globins / Q000737:chemistry / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D003062:Codon; D055544:beta-Globins
keywords: Hatay; Turkey; spectrum; β-Thalassemia (β-thal)