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International Journal of Hematology-Oncology and Stem Cell Research، جلد ۲۰۱۵، شماره ۱۰، صفحات ۰-۰
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عنوان انگلیسی Evaluation of Xmn1-158 yG variant in B-thalassemia intermediate patients in South-east of Iran
چکیده انگلیسی مقاله Background: Xmn-1 polymorphism of y G globin gene ( HBG2 ) is a prominent quantitative trait loci (QTL) in β-thalassemia intermediate (β-TI). In current study, we evaluated frequency of Xmn-1 polymorphism and its association with β-globin gene ( HBB ) alleles and Hb F level in β-TI patients in Sistan and Balouchestan province, south-east of Iran. Methods: 45 β-TI patients were enrolled. HBB gene mutations and Xmn-1 polymorphism were determined by amplification-refractory mutation system (ARMS) PCR method. Hemoglobin profile was determined using capillary electrophoresis. Results: Males and females comprised 26 (58%) and 19 (42%) subjects respectively. Mean age of the patients was 10.7±3.1 years old. Overall, Xmn-1 polymorphism was observed in 28 (62%) patients. Homozygous (TT) and heterozygous (CT) genotypes of the polymorphism represented with frequencies of 12 (26%) and 16 (35%) respectively. Main recognized HBB gene mutation was IVSI-5(G>C) with homozygous frequency of 44%. Non-zero (β + )alleles of HBB gene constituted 11.1 % (4 patients with heterozygous β + and one with homozygous β + genotype). Hb F level was significantly higher in patients with at least one Xmn-1 allele (67.9 ± 17.9%) than those without the polymorphism (19.5±20.3%, P< 0.0001). Also, patients with homozygous genotype demonstrated significant higher Hb F compared to heterozygous (CT) cases (respective percentages of 85 ± 6.8 and 54.7 ± 10.5, p< 0.0001). Conclusion: Our results highlighted the role of Xmn-1 polymorphism as the main phenotypic modifier in β-TI patients in Sistan and Balouchestan province.
کلیدواژه‌های انگلیسی مقاله Xmn-1 polymorphism,β-thalassemia intermediate, Hemoglobin F
نویسندگان مقاله ابراهیم میری مقدم | ebrahim miri moghaddam


سارا بهرامی | sara bahrami


مجید نادری | majid naderi


علی بزی | ali bazi


مرتضی کریمی پور | morteza karimipoor


نشانی اینترنتی http://ijhoscr.tums.ac.ir/index.php/ijhoscr/article/view/603
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