The novel SERPINC1 missense mutation c.1148 T > A (p.L383H) causes hereditary antithrombin deficiency and thromboembolism in a Chinese family: a case report
The novel c.1148 T > A (p.L383H) pathogenic mutation in the SERPINC1 gene updated the gene mutation spectrum of hereditary antithrombin deficiency. Direct oral anticoagulation with rivaroxaban may be a more effective and selective anticoagulant in patients with hereditary antithrombin deficiency over warfarin or heparin.
Authors
- Weiwei Ning (ORCID: https://orcid.org/0000-0003-2316-8693)
- Fangkai He
- Yang Wang (ORCID: https://orcid.org/0009-0004-1395-1232)
- Yao Yao (ORCID: https://orcid.org/0000-0002-6723-6152)
- Liu C (ORCID: https://orcid.org/0000-0001-6066-0340)
- Xiaojun Guan
Institutions
- Soochow University (CN)
- Shanghai University of Traditional Chinese Medicine (CN)
- Traditional Chinese Medicine Hospital of Kunshan (CN)
- First Affiliated Hospital of Soochow University (CN)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2025-03-06
- DOI
- https://doi.org/10.1186/s13256-025-05114-4
- Primary Topic
- Venous Thromboembolism Diagnosis and Management
- Type
- article
- Field-Weighted Citation Impact
- 0.00