The Spectrum of ?-Thalassemia Mutations in Hatay, Turkey: Reporting Three New Mutations

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dc.authoridIzmirli, Muzeyyen/0000-0002-8545-863X
dc.contributor.authorAldemir, Ozgur
dc.contributor.authorIzmirli, Muzeyyen
dc.contributor.authorKaya, Hasan
dc.date.accessioned2024-09-18T20:04:24Z
dc.date.available2024-09-18T20:04:24Z
dc.date.issued2014
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractbeta-Thalassemia (beta-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 P-thal mutations and to provide a foundation for prenatal genetic testing that will be a part of an effective prevention program for 13-thal disease in Hatay. We determined the spectrum of 13-thal mutations in 93 unrelated affected patients. Using a direct sequencing method, we identified a large number of beta-thal mutations. We found different results from other parts of Turkey. A total of 16 different 0-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 1S-thal mutations in the Hatay region, and that there was great molecular heterogeneity.en_US
dc.identifier.doi10.3109/03630269.2014.944915
dc.identifier.endpage328en_US
dc.identifier.issn0363-0269
dc.identifier.issn1532-432X
dc.identifier.issue5en_US
dc.identifier.pmid25155404en_US
dc.identifier.scopus2-s2.0-84907537359en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage325en_US
dc.identifier.urihttps://doi.org/10.3109/03630269.2014.944915
dc.identifier.urihttps://hdl.handle.net/20.500.12483/8142
dc.identifier.volume38en_US
dc.identifier.wosWOS:000342769400006en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTaylor & Francis Ltden_US
dc.relation.ispartofHemoglobinen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectbeta-Thalassemia (beta-thal)en_US
dc.subjectHatayen_US
dc.subjectspectrumen_US
dc.subjectTurkeyen_US
dc.titleThe Spectrum of ?-Thalassemia Mutations in Hatay, Turkey: Reporting Three New Mutationsen_US
dc.typeArticleen_US

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