Described the molecular characteristics , clinical hematological data and population frequency in Ganzhou City, Southern China of a Novel HBB: c.-23A>G Mutation in the 5' Untranslated Region.

Background: ß-thalassemia is a prevalent genetic disorder in the Gannan region, Southern China. Mutations in the 5' untranslated region of the ß-globin gene result in 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 were collected from these carriers, and the 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, resulting in a carrier frequency of 3.89 per 10,000. The statistical results showed that there were no significant differences in hematological parameters between individuals with HBB: c.-23A>G heterozygotes and normal individuals. Furthermore, the minimum free energy of mRNA carrying the HBB: c.-23A>G mutation showed no remarkable difference compared to that of normal individuals. Conclusions: 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 shed light on molecular and phenotypic characteristics of the HBB: c.-23A>G mutation, providing a theoretical basis for genetic counseling in clinical practice.