• Blood Coagul. Fibrinolysis · Sep 2012

    Fibrinogen Melbourne: a novel congenital hypodysfibrinogenemia caused by γ326Cys-Phe in the fibrinogen γ chain, presenting as massive splanchnic venous thrombosis.

    • Chan Y Cheah, Stephen O Brennan, Hannah Kennedy, Elchanan H Januszewicz, Ellen Maxwell, and Kate Burbury.
    • Department of Haematology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia. ccheah@iinet.net.au
    • Blood Coagul. Fibrinolysis. 2012 Sep 1; 23 (6): 563-5.

    AbstractCongenital dysfibrinogenemias are characterized by structural abnormalities in fibrinogen, which may lead to abnormal function. Fibrinogen has critical roles in coagulation, platelet aggregation and fibrinolysis; accordingly, abnormal fibrinogen function can result in a clinical phenotype, which varies from asymptomatic (around 55%) to bleeding (25%) and/or thrombosis (20%). We describe a novel γ326Cys→Phe mutation in the fibrinogen γ gene causing hypodysfibrinogenemia associated with life-threatening thrombosis in a family from Melbourne, Australia.

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