Molecular identification and phenotypic study of a novel HBB: c.-23A>G mutation in the 5’ untranslated region
The carrier frequency of <i>HBB</i>: 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 <i>HBB</i>: c.-23A>G mutation, providing crucial evidence for genetic counseling in clinical practice.
Authors
- Zezhang Liu (ORCID: https://orcid.org/0000-0003-4200-4061)
- Haijun Chen (ORCID: https://orcid.org/0000-0003-2605-1044)
- Junkun Chen (ORCID: https://orcid.org/0000-0003-0193-238X)
- Liyun Song (ORCID: https://orcid.org/0000-0001-8424-3138)
- Xiao Lin (ORCID: https://orcid.org/0000-0002-6039-3630)
- Jungao Huang (ORCID: https://orcid.org/0000-0002-3197-6044)
- Zuo‐Feng Zhang (ORCID: https://orcid.org/0000-0002-4669-3995)
- Wenqian Zhang
- Haimei Qi
- Xinxing Xie (ORCID: https://orcid.org/0000-0001-5531-8049)
- Shichun Shen
- Xianping Yuan
Institutions
- BGI Group (China) (CN)
- Ganzhou People's Hospital (CN)
- Gansu Provincial Maternal and Child Health Hospital (CN)
- BGI Genomics
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2025-10-30
- DOI
- https://doi.org/10.3389/fmed.2025.1675600
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00