Molecular spectrum of ?-globin gene mutations in the Aegean region of Turkey: first observation of three ?-globin gene mutations in the Turkish population

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dc.contributor.authorOnay H.
dc.contributor.authorAykut A.
dc.contributor.authorKaraca E.
dc.contributor.authorDurmaz A.
dc.contributor.authorSolmaz A.E.
dc.contributor.authorÇoğulu Ö.
dc.contributor.authorAydınok Y.
dc.contributor.authorVergin C.
dc.contributor.authorÖzkınay F.
dc.date.accessioned2019-10-27T08:21:06Z
dc.date.available2019-10-27T08:21:06Z
dc.date.issued2015
dc.departmentEge Üniversitesien_US
dc.description.abstractMolecular test results of 231 individuals referred to our molecular genetics laboratory for analysis of ?-globin gene mutations between the years 2007 and 2013 were evaluated. Analysis of ?-thalassemia gene mutations was performed using reverse dot-blot hybridisation, which includes 21 common mutations. Twelve distinct ?-thalassemia mutations and 23 different genotypes have been detected in the Aegean region of Turkey. The most frequent mutations were –?3.7 (52.28 %), –(?)20.5 (14.74 %), --MED (10.53 %), and ?PA-1? (8.77 %). Three ?-thalassemia mutations (?cd142?, --SEA, and ?IC?), which are more prevalent in Southeast Asia, are identified for the first time in Turkey in this study. We find that a broad spectrum of ?-thalassemia mutations is present in the Aegean region of Turkey. The results obtained in this study may help inform decisions in the design and implementation of prevention strategies and diagnostic approaches. © 2015, The Japanese Society of Hematology.en_US
dc.identifier.doi10.1007/s12185-015-1796-yen_US
dc.identifier.issn0925-5710
dc.identifier.issue1en_US
dc.identifier.pmid25939702en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.urihttps://doi.org/10.1007/s12185-015-1796-y
dc.identifier.urihttps://hdl.handle.net/11454/25918
dc.identifier.volume102en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer Tokyoen_US
dc.relation.ispartofInternational Journal of Hematologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHemoglobinopathyen_US
dc.subject?-globin geneen_US
dc.subject?-thalassemiaen_US
dc.titleMolecular spectrum of ?-globin gene mutations in the Aegean region of Turkey: first observation of three ?-globin gene mutations in the Turkish populationen_US
dc.typeArticleen_US

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