Haemoglobin switching modulator SNPs rs5006884 is associated with increased HbA₂ in β-thalassaemia carriers.

ABSTRACT:

Introduction

Haemoglobin A₂ (HbA₂), the tetramer of α- and δ-globin chains, is used as a diagnostic biomarker for β-thalassaemia carriers. The HbA₂ levels are regulated by the presence of HPFH, δ-thalassaemia, HbA_1/2 gene triplication, and variants of KLF1, β-globin gene, and HbF regulating QTLs. Saudi Arabia has a high incidence of borderline HbA₂ levels, thereby making it difficult to classify the haemoglobinopathies. This study aims to investigate the association of known HbF enhancer QTL gene SNPs with HbA₂ levels.

Material and methods

14 Specific SNPs in BCL11A, HMIP, OR51B6, HBBP1, and HBG2 loci were genotyped in 164 Saudi β-thalassaemia carriers by TaqMan assay to vali

SUBMITTER: Cyrus C 

PROVIDER: S-EPMC8314410 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature