Spectrum of α-thalassemia mutations including first observation of - -(FIL) deletion in Hatay Province, Turkey

• Published in: Blood cells, molecules, & diseases Vol. 51; no. 1; pp. 27 - 30
• Main Authors: Celik, Muhammet Murat, Gunesacar, Ramazan, Oktay, Gonul, Duran, Gulay Gulbol, Kaya, Hasan
• Format: Journal Article
• Language: English
• Published: United States 01-06-2013
• Subjects: Adolescent; Adult; Alleles; alpha-Globins - genetics; alpha-Globins - metabolism; alpha-Thalassemia - genetics; alpha-Thalassemia - metabolism; Erythrocyte Indices; Female; Gene Frequency; Genotype; Humans; Male; Mutation; Sequence Deletion; Turkey; Young Adult; Turkey
• ISSN: 1096-0961
• DOI: 10.1016/j.bcmd.2013.01.012

Alpha thalassemia (α-thal) is one of the most common genetic disorders in the world. It is characterized by the absence or reduced expression of α-globin genes. The frequency of α-thal mutations in the province of Hatay in South Turkey is unknown. Therefore, in the present study, we aimed to investigate the spectrum of α-thal mutations in this province. Three hundred and nine patients were tested for α-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 -α(3.7) (43.81%), -α2(-5nt) (6.70%), - -(MED) (5.67%) and α2(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 α-thal mutations are highly heterogeneous and -α(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.