%0 Journal Article
%T Beta-globin gene mutations in children with beta-thalassemia major from  anl urfa province, Turkey
%A Ali Ay£¿i£¿ek
%A Ahmet Ko£¿
%A Zeynep Canan £¿zdemir
%A Hasan Bilin£¿
%J Turkish Journal of Hematology
%D 2011
%I Galenos Yayinevi
%X Objective: The prevalence of ¦Â-thalassemia in  anl urfa province, Turkey is reported to be 2.6%-3.7%, whereas nation-wide the frequency of ¦Â-thalassemia is 2%. This study aimed to identify the most frequent ¦Â-thalassemia mutations in  anl urfa province. Materials and Methods: In total, 22 mutations were investigated in 115 pediatric patients with ¦Â-thalassemia using a commercially available reverse dot blot platform.Results: The study included 60 male and 55 female patients with a mean age of 7.3¡À4.6 years (range: 1-17 years). In total, 76% of the patients had consanguineous parents. In all, 16 different mutations were observed in the 115 patients. IVS-1-110 (G-A) (29.1%), IVS-1-1 (G-A) (13.9%), codon 39 (C>T) (10.4%), and codon 8 (-AA) (9.1%) accounted for 62.5% of all the ¦Â-thalassemia mutations, and 6% of the patients had 2 different thalassemia mutations. According to the present results, IVS-1-110 (G>A) was the most frequent mutation observed in the patients from  anl urfa province, as in other geographical regions of Turkey. In addition, the following 34 compound heterozygote mutant alleles were observed; IVS-1-1 (G>A)/IVS 2.848 (n=4), codon 39 (C>T)/codon 8 (-AA) (n=2), codon 6 (-A)/IVS 1.5 (G>C) (n=2), IVS-1-110 (G>A)/IVS-1-1 (G>A) (n=2), IVS-1-110 (G>A)/codon 8 (-AA) (n=1), IVS-1-110 (G>A)/codon 39 (C>T) (n=1), IVS-1-110 (G>A)/IVS-1-6 (T>C) (n=1), IVS-1-110 (G>A)/IVS-1-5 (G>C) (n=1), IVS-1-110 (G>A]/codon 8/9 (+G) (n=1), IVS-1-1 (G>A)/codon 39 (C>T) (n=1), and codon 8 (-AA)/IVS-1-5 (G>C) (n=1). The following ¦Â-globin gene promoter mutations were not observed; -101 (C>T), -87(C>T), -30 (T>A), codon 15 (TTG>TGA), codon 27 (G>T) Knossos, and IVS-1-116 (G>C). In all, 5 of the 115 patients (4.3%) had an unidentified mutation.Conclusion: The present results illustrate the heterogeneity of ¦Â-thalassemia mutations in  anl urfa Province. The present findings may be of value for genetic counseling, and premarital and prenatal diagnosis in  anl urfa province.
%K Beta-thalassemia
%K mutation
%K anl urfa
%K Turkey
%U http://www.journalagent.com/z4/download_fulltext.asp?pdir=tjh&plng=eng&un=TJH-98271