Celik, Muhammet MuratGunesacar, RamazanOktay, GonulDuran, Gulay GulbolKaya, Hasan2024-09-182024-09-1820131079-97961096-0961https://doi.org/10.1016/j.bcmd.2013.01.012https://hdl.handle.net/20.500.12483/7579Alpha 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.eninfo:eu-repo/semantics/closedAccessalpha-ThalassemiaMutationsFrequency--(FIL) deletionTurkeyArticle511273010.1016/j.bcmd.2013.01.012234197042-s2.0-84877133980Q2WOS:000330206500006Q3