The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, China
Two rare variants, Hb O-Arab and Hb D-Punjab, were identified in Guangxi, China using SMRT. The first report of Hb O-Arab enriches the spectrum of hemoglobin variants in the Chinese population. Analyzing the frequency, origin and genotype-phenotype correlation of these variants could pave the way for clinical management and genetic counseling for hemoglobinopathies.
Authors
- Yinghui Lai (ORCID: https://orcid.org/0000-0002-7517-3630)
- Yunting Ma
- Zifeng Cheng (ORCID: https://orcid.org/0000-0002-8486-2614)
- Chunrong Gui
- Qianqian Du (ORCID: https://orcid.org/0000-0002-5948-739X)
- Baoheng Gui (ORCID: https://orcid.org/0000-0003-2917-2108)
- Wei Wei (ORCID: https://orcid.org/0000-0003-3561-913X)
- Hongfei Chen (ORCID: https://orcid.org/0000-0002-9786-1514)
- Yongsheng Chen (ORCID: https://orcid.org/0000-0003-1448-8177)
- Xu Zhou (ORCID: https://orcid.org/0000-0002-0510-6395)
- Xianda Wei (ORCID: https://orcid.org/0000-0002-2665-0242)
- Juliang Liu
Institutions
- Guangxi Medical University (CN)
- Berry Oncology (China) (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-08-14
- DOI
- https://doi.org/10.3389/fgene.2025.1622391
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00