Molecular analysis of abnormal hemoglobins in beta chain in Aegean region of Turkey and first reports of hemoglobin Andrew- Minneapolis and Hb Hinsdale from Turkey

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dc.contributor.authorAykut A.
dc.contributor.authorOnay H.
dc.contributor.authorDurmaz A.
dc.contributor.authorKaraca E.
dc.contributor.authorVergin C.
dc.contributor.authorAydinok Y.
dc.contributor.authorÖzkınay F.
dc.date.accessioned2019-10-27T08:21:27Z
dc.date.available2019-10-27T08:21:27Z
dc.date.issued2015
dc.departmentEge Üniversitesien_US
dc.description.abstractObjectives: The Agean is one of the regions in Turkey where thalassemias and abnormal hemoglobins (Hbs) are prevalent. Combined heterozygosity of thalassemia mutations with a variety of structural Hb variants lead to an extremely wide spectrum of clinical and hematological phenotypes which is of importance for prenatal diagnosis. Methods: One hundred and seventeen patients and carriers diagnosed by hemoglobin electrophoresis (HPLC), at risk for abnormal hemoglobinopathies were screened for mutational analysis of the beta-globin gene. The full coding the 5' UTR, and the 3' UTR sequences of beta-globin gene (GenBank accession no. U01317) were amplified and sequenced. Results: In this study, a total of 118 (12.24%) structural Hb variant alleles were identified in 1341 mutated beta-chain alleles in Medical Genetics Department of Ege University between January 2006 and November 2013. Discussion: Here, we report the mutation spectrum of abnormal Hbs associated with the beta-globin gene in Aegean region of Turkey. Conclusion: In the present study, the Hb Hinsdale and Hb Andrew-Minneapolis variants are demonstrated for the first time in the Turkish population. © W. S. Maney & Son Ltd 2015.en_US
dc.identifier.doi10.1179/1607845414Y.0000000193en_US
dc.identifier.endpage358en_US
dc.identifier.issn1024-5332
dc.identifier.issue6en_US
dc.identifier.pmid25313792en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage354en_US
dc.identifier.urihttps://doi.org/10.1179/1607845414Y.0000000193
dc.identifier.urihttps://hdl.handle.net/11454/26026
dc.identifier.volume20en_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherManey Publishingen_US
dc.relation.ispartofHematologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAbnormal hemoglobinsen_US
dc.subjectHb Andrew-Minneapolisen_US
dc.subjectHb Hinsdaleen_US
dc.titleMolecular analysis of abnormal hemoglobins in beta chain in Aegean region of Turkey and first reports of hemoglobin Andrew- Minneapolis and Hb Hinsdale from Turkeyen_US
dc.typeArticleen_US

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