Abstract: Objective To investigate the correlation between rs368698783 and rs7482144 locus and fetal hemoglobin (HbF) expression in β-thalassemia patients of Yunan province. Methods A total of 579 samples were collected, including 51 samples of β-thalassaemia, 40 samples with HbE, 113 samples of HbF＞5%(β^N/β^N), 113 samples of HbF＞5%(β^M/β^N) and 262 samples from controls. Sanger sequencing was used to determine the genotypes of rs368698783 and rs7482144. The relationship between rs368698783 and HbF levels was analysed by comparing haematological parameters, mutant gene detection rates and MAF. Results The detection rate and MAF of mutated genes at the rs368698783 and rs7482144 loci were significantly higher in non-transfusion-dependent β-thalassaemia patients than that in controls(P＜0.05). The detection rate and MAF of mutated genes at the rs368698783 and rs7482144 loci were significantly higher in HbE pure samples than that in controls (P＜0.001). The detection rates of mutated genes and MAF at rs368698783 and rs7482144 loci were significantly higher in HbF＞5% (β^N/β^N) and HbF＞5% (β^M/β^N) samples than in the control group (P＜0.001). Conclusions The rs368698783 and rs7482144 mutation is associated with elevated HbF level and with HbE mutations. The A allele and T allele can reduce the degree of anaemia and alleviate the clinical symptoms of β-thalassemia.

Key words: β-thalassemia, fetal hemoglobin, rs368698783, rs7482144