Spectrum of α-thalassemia mutations including first observation of - -fil deletion in hatay province, turkey

Celik M. M., GÜNEŞAÇAR R., Oktay G., Duran G. G., KAYA H.

Blood Cells, Molecules, and Diseases, cilt.51, sa.1, ss.27-30, 2013 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 51 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.bcmd.2013.01.012
  • Dergi Adı: Blood Cells, Molecules, and Diseases
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.27-30
  • Anahtar Kelimeler: α-Thalassemia, - -FIL deletion, Frequency, Mutations, Turkey
  • Hatay Mustafa Kemal Üniversitesi Adresli: Evet

Özet

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. © 2013 Elsevier Inc.