title: Fibrinogen Saint-Germain II: hypofibrinogenemia due to heterozygous gamma N345S mutation.
abstract: We have identified a novel heterozygous fibrinogen gamma chain mutation, gammaN345S (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.
authors.affiliation: Laboratoire d'Hématologie, CHI Poissy-St-Germain-en-Laye, St-Germain-en-Laye, France. ederaucourt@chi-poissy-st-germain.fr
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: de Raucourt
authors.forename: Philippe
authors.initials: P
authors.lastname: de Mazancourt
authors.forename: Ghassan J
authors.initials: GJ
authors.lastname: Maghzal
authors.forename: Stephen O
authors.initials: SO
authors.lastname: Brennan
authors.forename: Michael W
authors.initials: MW
authors.lastname: Mosesson
mesh_terms: D000328:Adult; D000347:Afibrinogenemia / Q000235:genetics*; D015241:Fibrinogens, Abnormal / Q000737:chemistry / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D013058:Mass Spectrometry; D008970:Molecular Weight; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D020246:Venous Thrombosis / Q000235:genetics*
chemical_list: D015241:Fibrinogens, Abnormal