Thalassemia mutations in Gaziantep, Turkey

PEHLİVAN S., Okan V., Guler E., Yilmaz M., Sever T., Dikensoy E., ...More

AFRICAN JOURNAL OF BIOTECHNOLOGY, vol.9, no.8, pp.1255-1258, 2010 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 9 Issue: 8
  • Publication Date: 2010
  • Journal Name: AFRICAN JOURNAL OF BIOTECHNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1255-1258
  • Istanbul University Affiliated: No

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, alpha-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 alpha and beta-globin genes mutation is 2.6 and 79.4%, respectively.