Aykut A.Onay H.Durmaz A.Karaca E.Vergin C.Aydinok Y.Özkınay F.2019-10-272019-10-2720151024-5332https://doi.org/10.1179/1607845414Y.0000000193https://hdl.handle.net/11454/26026Objectives: 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.en10.1179/1607845414Y.0000000193info:eu-repo/semantics/closedAccessAbnormal hemoglobinsHb Andrew-MinneapolisHb HinsdaleArticle20635435825313792Q3