ORIGINAL RESEARCH article
Front. Med.
Sec. Hematology
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1675600
Molecular Identification and Phenotypic Study of a Novel HBB: c.-23A>G Mutation in the 5' Untranslated Region
Provisionally accepted
Shichun Shen1
Jungao Huang1
Haimei Qi2
Zezhang Liu3,4Wenqian Zhang3,4Xianping Yuan5Zhuling Zhang5Haijun Chen1Xinxing Xie1Lin Xiao1
Junkun Chen1Liyun Song6*- 1Department of medical genetics, Ganzhou Maternal and Child Health Hospital, Ganzhou, China
- 2Department of clinical Laboratory, Ganzhou Maternal and Child Health Hospital, Ganzhou, China
- 3BGI Genomics, Shenzhen, China
- 4Clin Lab, BGI Genomics, Wuhan, China
- 5Obstetrical department, Ganzhou Maternal and Child Health Hospital, Ganzhou, China
- 6Department of Clinical Laboratory, Ganzhou People's Hospital, Ganzhou, China
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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. 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 elucidates the molecular and phenotypic characteristics of the HBB: c.-23A>G mutation, providing crucial evidence for genetic counseling in clinical practice.
Keywords: β-Globin gene, 5′ untranslated region, Novel mutation, hematological parameters, Minimum free energy
Received: 29 Jul 2025; Accepted: 07 Oct 2025.
Copyright: © 2025 Shen, Huang, Qi, Liu, Zhang, Yuan, Zhang, Chen, Xie, Xiao, Chen and Song. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Liyun Song, chinesu@126.com
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