Association Between KLF1, BCL11A and HBS1L‐MYB Polymorphisms and Phenotypes With β‐Thalassemia Patients in Hainan

Background The factors influencing the phenotypic heterogeneity of patients with β‐thalassemia have been receiving much attention in the field of hematology research. Activating the sustained expression of fetal hemoglobin (HbF) has proven to be one of the effective ways to alleviate the clinical symptoms of β‐thalassemia. Studies have reported that single nucleotide polymorphisms (SNP) in KLF1 , BCL11A , and HBS1L‐MYB can increase the expression level of HbF in patients with β‐thalassemia and have an impact on the phenotype. Methods In this study, SNaPshot and Sanger sequencing were used to detect SNPs of BCL11A , HBS1L‐MYB , and KLF1 in patients with different types of β‐thalassemia collected in Hainan. Linkage disequilibrium and haplotype analysis were performed on mutant sites. Results As a result, 41 mutation types of the above genes were detected (high mutation frequency and wide distribution range), and there was strong linkage disequilibrium at multiple mutation sites, resulting in multiple haplotypes. However, there are no significant differences in the distribution of gene polymorphisms between different types of β‐thalassemia, suggesting that the modifications of KLF1 , BCL11A , and HBS1L‐MYB may have little impact on the β‐thalassemia phenotype in this region. Conclusion Our study provides data support for assessing the impact of modified genes on the phenotype of patients with β‐thalassemia in Hainan, and also promotes the clinical accurate diagnosis and classification evaluation of β‐thalassemia.