Three novel heterozygous ANK1 loss-of-function variants cause hereditary spherocytosis in Chinese families
Our study offers valuable insights into the molecular mechanisms associated with HS linked to three de novo ANK1 variants. These findings deepen our understanding of the pathogenesis of HS and emphasize the critical role of genetic screening in the diagnosis of this condition.
Authors
- Jie Yu (ORCID: https://orcid.org/0000-0001-6349-152X)
- Lan Huang (ORCID: https://orcid.org/0000-0002-3140-4687)
- Yang Wang (ORCID: https://orcid.org/0000-0003-0842-2446)
- Yongjie Zhang (ORCID: https://orcid.org/0000-0002-6331-2189)
- Yang Li (ORCID: https://orcid.org/0000-0003-4022-7341)
- Yan Xiang (ORCID: https://orcid.org/0000-0001-9948-7207)
- Wen Wang (ORCID: https://orcid.org/0000-0002-7413-5368)
- Tao Liu (ORCID: https://orcid.org/0000-0003-1701-6618)
- Xiao Li (ORCID: https://orcid.org/0000-0001-6894-7370)
Institutions
- Binzhou Medical University (CN)
- Shandong University of Aeronautics (CN)
- Shanghai Medical Information Center (CN)
Publication Details
- Journal
- Annals of Hematology
- Published
- 2025-06-02
- DOI
- https://doi.org/10.1007/s00277-025-06408-9
- Primary Topic
- Erythrocyte Function and Pathophysiology
- Type
- article
- Field-Weighted Citation Impact
- 0.00