Screening of Mutations in the Binding Domain of the SALL2 Gene in Patients with Beta Thalassemia Major

OpenAlex İngilizce

Beta thalassemia (βT) is an autosomal recessive disorder that exhibit a wide clinical phenotypic spectrum, ranging from severe transfusion-dependent β-thalassemia major (β-TM) to asymptomatic β-thalassemia minor (β-Tm). This variation is primarily influenced by the effect of modifier genes, particularly those associated with fetal hemoglobin (HbF) induction. In this study, we aimed to investigate whether mutations in the binding regions of the potential modifier SALL2 gene are associated with high fetal hemoglobin (HbF) percentages in β-TM patients. Our study included a total of 66 patients from whom blood samples were collected before blood transfusion. The second exon, containing the binding domains of the SALL2 gene, was screened using the Sanger sequencing method, and the rs1263810 (c.2236C>G, g.18725C>G, p.Gly746Arg) variant was identified. Among the 66 patients, 6 (9.09%) had the CC genotype, 34 (51.51%) had the CG genotype, and 26 (39.39%) had the GG genotype, with the estimated frequencies of the C and G alleles being 34.85% and 65.15%, respectively. Our findings show that the p.Gly746Arg variant in the binding motif of the SALL2 gene is reported for the first time in β-TM patients with high HbF concentrations (%) in the Turkish population. Although no statistically significant relationship was found between the genotypes of this variant and HbF percentage levels, we believe that the high G allele frequency (65.15%) found in patients with high HbF will make a significant contribution to the management of HbF in patients with beta thalassemia major when evaluated together with other epigenetic and modifying genes.