Abstract
BACKGROUND: β-thalassemia is a prevalent genetic disorder in the Gannan region, Southern China. Mutations in the 5' untranslated region of the β-globin gene are associated with diverse clinical phenotypes, posing challenges for effective prevention strategies in this region. METHODS: In this study, carriers of the HBB: c.-23A>G mutation were identified from a cohort of 192,720 individuals who underwent thalassemia gene testing in the Gannan region. Hematological data from these carriers were collected, and pedigree information was gathered for further analysis. RESULTS: Among the 192,720 individuals tested, 75 carriers of the HBB: c.-23A>G mutation were identified, yielding a carrier frequency of 3.89 per 10,000. Statistical analysis showed no significant differences in hematological parameters between HBB: c.-23A>G heterozygotes and normal individuals. Furthermore, the minimum free energy of mRNA with the HBB: c.-23A>G mutation showed no significant difference compared to that of the wild-type mRNA. CONCLUSION: The carrier frequency of HBB: c.-23A>G in the Gannan region is non-negligible. Hematological data analyses suggested that this mutation may be a likely benign variant. Overall, this study elucidates the molecular and phenotypic characteristics of the HBB: c.-23A>G mutation, providing crucial evidence for genetic counseling in clinical practice.