Impact of Genetic Polymorphisms in Modifier Genes in Determining Fetal Hemoglobin Levels in Beta-Thalassemia

Genetic polymorphisms in Quantitative Trait Loci (QTL) genes such as BCL11A, HBS1L-MYB and KLF1 have been reported to influence fetal hemoglobin (HbF) levels. This prospective study was planned evaluate the role of genetic QTL determinant HbF levels beta thalassemia major patients. The carried out on 100 Blood samples were collected EDTA plain vials for biochemical molecular evaluation. genotypes determined using a polymerase chain reaction (PCR)-based method. Red Cell (RBC) indices assessed. In silico analysis assessed loss-of-function tool (Lof Tool). Statistical difference comparisons between groups evaluated by SPSS Windows, version 16.0 (SPSS Inc., Chicago, IL, USA). Comparisons quantitative variables after data explored normality Kolmogorov–Smirnov test normality. Logistic regression used computation ORs 95% CIs (Confidence Interval). We observed association patients with BCL11A (rs11886868 rs7557939; rs1427407 rs766432) (rs9399137) gene. results this indicated that presence modifier are strongly associated an increase Further research larger sample size other is required.