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

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%), -α2− 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.