Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China
The genotype distribution of thalassemia in a general hospital in Beijing is complex and heterogeneous. The novel variants in HBA2 and HBB are likely to underlie α/β-thalassemia in these patients.
Authors
- Xianhui Zeng (ORCID: https://orcid.org/0000-0002-2865-7560)
- Zhuo Yang (ORCID: https://orcid.org/0000-0002-6403-9356)
- Xinfei Chen (ORCID: https://orcid.org/0000-0001-5306-8816)
- Lingjun Kong (ORCID: https://orcid.org/0000-0002-6854-4202)
- Yaling Dou (ORCID: https://orcid.org/0000-0001-5240-2384)
- Dong Zhang (ORCID: https://orcid.org/0000-0001-5454-1396)
- Han Zhang (ORCID: https://orcid.org/0000-0002-9991-9409)
- Han Xiao (ORCID: https://orcid.org/0000-0003-2062-7049)
- Yu Chen (ORCID: https://orcid.org/0000-0002-6953-2115)
- Juan Du (ORCID: https://orcid.org/0000-0002-4484-9562)
- Jie Yi (ORCID: https://orcid.org/0000-0003-1625-768X)
- Ziran Wang (ORCID: https://orcid.org/0000-0001-8163-044X)
- Hongrui Xu (ORCID: https://orcid.org/0000-0001-6018-7514)
- Rui Zhang (ORCID: https://orcid.org/0000-0003-3920-7757)
- Jie Wu (ORCID: https://orcid.org/0000-0002-5806-2963)
- Yu Qi (ORCID: https://orcid.org/0009-0006-0040-9668)
- Yong Gan
- Ziyi Wang (ORCID: https://orcid.org/0009-0007-7576-2631)
- Ali Ye
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
- Bioscience (China) (CN)
Publication Details
- Journal
- Human Genomics
- Published
- 2025-02-21
- DOI
- https://doi.org/10.1186/s40246-024-00715-4
- Citations
- 1
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.63
Funders
- National Key Research and Development Program of China