Spectrum of a-thalassemia mutations including first observation of - -FIL deletion in Hatay Province, Turkey

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dc.contributor.authorCelik, Muhammet Murat
dc.contributor.authorGunesacar, Ramazan
dc.contributor.authorOktay, Gonul
dc.contributor.authorDuran, Gulay Gulbol
dc.contributor.authorKaya, Hasan
dc.date.accessioned2024-09-18T19:52:39Z
dc.date.available2024-09-18T19:52:39Z
dc.date.issued2013
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractAlpha thalassemia (alpha-thal) is one of the most common genetic disorders in the world. It is characterized by the absence or reduced expression of alpha-globin genes. The frequency of alpha-thal mutations in the province of Hatay in South Turkey is unknown. Therefore, in the present study, we aimed to investigate the spectrum of alpha-thal mutations in this province. Three hundred and nine patients were tested for alpha-thal mutations by using reverse dot blot hybridization technique and nine different mutations were detected in 97 of them. Among the 9 different mutations found, the most frequent mutations were the -alpha(3.7) (43.81%), -alpha 2(-5nt) (6.70%), - -(MED) (5.67%) and alpha 2(Poly) (A2) (2.57%). In the present study, - -(FIL) mutation was detected in a patient for the first time in Turkey. Our results indicated that alpha-thal mutations are highly heterogeneous and -alpha(3.7) is the most prevalent mutation in Hatay province of South Turkey. In addition, - -(FIL) mutation was detected in a patient for the first time in Turkey. This new finding may contribute to the establishment of a national mutation database and genetic counseling. (C) 2013 Elsevier Inc. All rights reserved.en_US
dc.identifier.doi10.1016/j.bcmd.2013.01.012
dc.identifier.endpage30en_US
dc.identifier.issn1079-9796
dc.identifier.issn1096-0961
dc.identifier.issue1en_US
dc.identifier.pmid23419704en_US
dc.identifier.scopus2-s2.0-84877133980en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage27en_US
dc.identifier.urihttps://doi.org/10.1016/j.bcmd.2013.01.012
dc.identifier.urihttps://hdl.handle.net/20.500.12483/7579
dc.identifier.volume51en_US
dc.identifier.wosWOS:000330206500006en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherAcademic Press Inc Elsevier Scienceen_US
dc.relation.ispartofBlood Cells Molecules and Diseasesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectalpha-Thalassemiaen_US
dc.subjectMutationsen_US
dc.subjectFrequencyen_US
dc.subject--(FIL) deletionen_US
dc.subjectTurkeyen_US
dc.titleSpectrum of a-thalassemia mutations including first observation of - -FIL deletion in Hatay Province, Turkeyen_US
dc.typeArticleen_US

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