بررسی ارتباط پلی‌مورفیسم ژن BCL11A با میزان بیان ژن گاما گلوبین و مقدار هموگلوبین F در افراد مبتلا به بیماری بتا تالاسمی اینترمدیا در جمعیت اصفهان

 Background: A Thalassemia intermedium is an autosomal recessive disease that from clinical and also genotypic view contains a very heterogeneous group of hemoglobinopathies and severity of disease is placed between thalassemia major and minor. High levels of fetal hemoglobin have a major impact on the severity of this disease, so that increased production of HbF, reduces these verities of disease. Many factors both within and outside of the beta-globin locus, including some polymorphisms in BCL11A gene, can increase the production of fetal hemoglobin and modify the clinical symptoms of beta-thalassemia intermedia patients. Methods: This research is a retrospective study. In this study, common polymorphism rs11886868 in intron 2 of BCL11A gene using Tetra-primer ARMS PCR method was genotyped among 50 patients with beta thalassemia intermedia disease. The values of fetal and total hemoglobin were determined by study of electrophoresis data for each patient. Data were analyzed using independent-samples t test, paired-samples t-test and Chi-square statistical method through SPSS v.16. Results: Genotyping study of BCL11A polymorphism showed that a total of 45 patients were heterozygous (CT) and 5 were homozygous (CC) in polymorphic site. Average levels of fetal and total hemoglobin in patients were 75.2±32.04g/dl and 8.9±1.33g/dl, respectively. People who were heterozygote (CT) in polymorphic site, had a higher average of fetal and total hemoglobin in comparison with patients without this status, however, this increase was not statistically significant (p-values were 0.93 and 0.51, respectively). Conclusion: Our data showed that in the presence of T allele in polymorphic site, the values of HbF and Hb would be increased. However, that increase was not statistically significant