title: Spectrum of α-thalassemia mutations including first observation of - -(FIL) deletion in Hatay Province, Turkey.
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 -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.
authors: Department of Internal Medicine, Mustafa Kemal University Medical Faculty, Hatay, Turkey.
authors: Muhammet Murat
authors: MM
authors: Celik
authors: Ramazan
authors: R
authors: Gunesacar
authors: Gonul
authors: G
authors: Oktay
authors: Gulay Gulbol
authors: GG
authors: Duran
authors: Hasan
authors: H
authors: Kaya
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D004909:Erythrocyte Indices; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D017384:Sequence Deletion; D014421:Turkey; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics* / Q000378:metabolism; D017085:alpha-Thalassemia / Q000235:genetics* / Q000378:metabolism
chemical_list: D055542:alpha-Globins