Thrombosis and Haemostasis, Table of Contents Thromb Haemost 2005; 94(05): 965-968DOI: 10.1160/TH05-05-0334 Blood Coagulation, Fibrnolysis and Cellular Haemostasis Schattauer GmbH Fibrinogen Saint-Germain II: Hypofibrinogenemia due to heterozygous γ N345S mutation Authors Author Affiliations 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 Recommend Article Abstract Buy Article(opens in new window) 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 KeywordsHypofibrinogenemia - thrombosis risk factors Full Text References References 1 Mosesson MW, Siebenlist KR, Meh DA. The structure and biological features ofibrinogen and fibrin. Nieuwenhuizen W, Mosesson MW, de Maat MPM. editors. Fibrinogen. Ann NY Acad Sci 2001; 936: 11-30. 2 Mosesson MW. Fibrinogen gamma chain functions. J Thromb Haemost 2003; 1: 231-8. 3 Mosesson MW. Hereditary Fibrinogen Abnormalities. 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