Two different fibrinogen gene mutations associated with bleeding in the same family (A alphaGly13Glu and gammaGly16Ser) and their impact on fibrin clot properties: fibrinogen Krakow II and Krakow III.

摘要

Congenital dysfibrinogenaemia is asymptomatic in the majority of cases while approximately 25% of cases are associated with bleeding particularly following trauma, surgery, or childbirth (1, 2). Dysfibri-nogenaemias are associated predominantly with defective fibrinopeptide release and/ or with retarded fibrin polymerisation (1). In clinical practice the diagnosis of dysfibrinogenaemia is based on the detection of prolonged thrombin time, the most sensitive screening test, and low ratio of clot-table fibrinogen to its antigen. The ultimate diagnosis, however, is established based on molecular tests. Dysfibrinogenaemia is most frequently caused by heterozygosity for a missense mutation within two of the three fibrinogen genes (FGA, FGG) (1,2).