Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China
A substantial frequency of rare thalassemia gene mutations was identified in the Northern Guangxi population, contributing to the regional mutational landscape. These rare genotypes were associated with distinctive hematological and hemoglobin electrophoretic features. Characteristic phenotypic patterns, combined with specific laboratory parameters, facilitated preliminary inference of genotypes and supported the application of targeted diagnostic approaches. This strategy may improve diagnostic accuracy, reduce missed or incorrect diagnoses, and enhance prenatal and postnatal management strategies.
Authors
- Weijia Yang (ORCID: https://orcid.org/0000-0003-0547-4814)
- Changhua Huang
- Liming Liang (ORCID: https://orcid.org/0000-0001-8261-3174)
- Qian Zhou (ORCID: https://orcid.org/0000-0002-2319-1095)
- Xiaomin Gong (ORCID: https://orcid.org/0000-0003-1206-5920)
- Ying‐Hung Lin (ORCID: https://orcid.org/0000-0002-1574-1579)
- Min Dou (ORCID: https://orcid.org/0000-0001-9302-8018)
- Qing-ping Kang
Institutions
- Guilin Medical University (CN)
- Women's and Children's Hospital (AU)
- Guilin University of Technology (CN)
- 181st Hospital of Chinese People's Liberation Army (CN)
Publication Details
- Journal
- Frontiers in Immunology
- Published
- 2025-10-28
- DOI
- https://doi.org/10.3389/fimmu.2025.1695120
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00