Full Length Research Paper

Thalassemia mutations in Gaziantep, Turkey

Sacide Pehlivan¹*, Vahap Okan², Elif Guler³, Mehmet Yilmaz², Tugce Sever¹, Ebru Dikensoy⁴, Gaye Cankus ¹, Ozcan Balat⁴ and Mustafa Pehlivan²

¹Department of Medical Biology and Genetic, Gaziantep University School of Medicine, Gaziantep, TR-27310, Turkey.

²Department of Hematology, Gaziantep University School of Medicine, Gaziantep, TR-27310, Turkey.

³Department of Pediatric Oncology, Gaziantep University School of Medicine, Gaziantep, TR-27310, Turkey.

⁴Department of Obstetrics and Gynecology, Gaziantep University School of Medicine, Gaziantep, TR-27310, Turkey.

*Corresponding author. E-mail: psacide@hotmail.com or spehlivan@gantep.edu.tr. Tel: +90 533 6391813. Fax: +90 342 3606028. Office: +90 342 360 6060. Internal: 77774.

Accepted 19 January, 2010

   Abstract

Ninety-eight postnatal and six prenatal cases of thalassemia were studied by the reverse dot-blot hybridization technique in the city of Gaziantep, Turkey. We found the following mutations: IVS 1.110 (G>A) in 29.1%, IVS 2.1 (G>A) in 12.3%, IVS 1.1 (G>A) in 7.7%, Codon 8 (−AA) in 5.6%, -30 (T>A) in 4.6%, IVS 1.6 (T>C) in 4.6%, Codon 39 (C>T) in 3.6%, Codon 44 (-C) in 3.1%, IVS 2.745 (C>G) in 1.5%, Codon 8/9 (+G) in 2.1%, Codon 36/37 (-T) in 2.1%, IVS 1.5 (G>C) in 2.1%, Codon 22 (7pb del) in 0.5%, Codon 5 (-CT) in 0.5% while 20.9% were undetermined. 54 of the thalassemia patients were homozygotes, 12 were compound heterozygous and 31 were heterozygotes. In one allele of 5 thalassemia patients, α-thalassemia mutation (3.7 single gene deletions in 1 patient, anti-3.7 gene triplication in 4 patients) was determined at the same time. Finally, this is the first comprehensive study in this region and percentage of α and β- globin genes mutation is 2.6 and 79.4%, respectively.

Key words: α- thalassemia, β -thalassemia, DNA, mutation, polymerase chain reaction.