Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5913552 | Blood Cells, Molecules, and Diseases | 2013 | 4 Pages |
Abstract
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 -α3.7 (43.81%), -α2â 5nt (6.70%), - -MED (5.67%) and α2Poly 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 -α3.7 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.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Molecular Biology
Authors
Muhammet Murat Celik, Ramazan Gunesacar, Gonul Oktay, Gulay Gulbol Duran, Hasan Kaya,