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Thromb Haemost 2005; 94(05): 965-968
DOI: 10.1160/TH05-05-0334
Blood Coagulation, Fibrnolysis and Cellular Haemostasis
Schattauer GmbH

Fibrinogen Saint-Germain II: Hypofibrinogenemia due to heterozygous γ N345S mutation

Emmanuelle de Raucourt
1   Laboratoire d’Hématologie, CHI Poissy-St-Germain-en-Laye, St-Germain-en-Laye, France
,
Philippe de Mazancourt
2   Laboratoire de Biochimie et Biologie Moléculaire, Hôpital Poincaré, Garches France
,
Ghassan J. Maghzal
3   Canterbury Health Laboratories, Christchurch, New Zealand
,
Stephen O. Brennan
3   Canterbury Health Laboratories, Christchurch, New Zealand
,
Michael W. Mosesson
4   Blood Research Institute, Blood Center of Wisconsin, Milwaukee, Wisconsin, USA
› Author Affiliations
Further Information

Publication History

Received: 13 May 2005

Accepted after revision: 20 September 2005

Publication Date:
14 December 2017 (online)

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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.

Keywords

Hypofibrinogenemia - thrombosis risk factors
 

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