Fibrinogen Saint-Germain II: hypofibrinogenemia due to heterozygous gamma N345S mutation.
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.
de Raucourt
Emmanuelle
E
Laboratoire d'Hématologie, CHI Poissy-St-Germain-en-Laye, St-Germain-en-Laye, France. ederaucourt@chi-poissy-st-germain.fr
de Mazancourt
Philippe
P
Maghzal
Ghassan J
GJ
Brennan
Stephen O
SO
Mosesson
Michael W
MW
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*
D015241:Fibrinogens, Abnormal