Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case report
Yuwen Huang, Yinling Wang, Xiaoli Wang, Jue Liu, Bing Luo, Yuanmei Gao · 2023
Read Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency: a case report by Yuwen Huang, Yinling Wang, Xiaoli Wang, Jue Liu, Bing Luo, Yuanmei Gao (2023) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-10720155.txt.
Description
Yuwen Huang and co-authors report a pregnant patient whose new gene variant caused repeated blood clots in a 2023 case study. A clotting control protein, antithrombin, was briefly low in her blood. Its gene, SERPINC1, is prone to many changes, and each change can behave differently.
The thirty-six-year-old carried a never-before-seen variant in that gene. She suffered several vein clots during pregnancy. Clot-busting and blood-thinning drugs were given, and after the pregnancy ended a newer thinner shrank the clots. The case adds the variant to the known list and gives gene counselors fresh ground for advising such patients.
Catalog record
| CREATOR | Yuwen Huang, Yinling Wang, Xiaoli Wang, Jue Liu, Bing Luo, Yuanmei Gao |
|---|---|
| YEAR | 2023 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 24 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |