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DOI: 10.1160/TH05-05-0334
Fibrinogen Saint-Germain II: Hypofibrinogenemia due to heterozygous γ N345S mutation
Publikationsverlauf
Received: 13. Mai 2005
Accepted after revision: 20. September 2005
Publikationsdatum:
14. Dezember 2017 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00035024/200505/lookinside/thumbnails/10-1160-th05-05-0334-1.jpg)
Summary
We have identified a novel heterozygous fibrinogen γ chain mutation, γN345S (Fibrinogen Saint-Germain II), in a subject with hypofibrinogenemia. There was no evidence by mass spectrometry of plasma fibrinogen containing the mutant chain. The hypofibrinogenemia was discovered in a 26-year-old man who experienced extensive deep venous thrombosis of the left leg associated with pulmonary embolism. Investigation of potential thromboembolic risk factors revealed heterozygosity of the factor V R506Q mutation (factor V Leiden) and heterozygosity of the prothrombin gene G20210A mutation. The hypofibrinogenemia may be contributory to the thrombophilic manifestations.
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