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, Kate Burbury

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Congenital 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.

Original languageEnglish
Pages (from-to)563-565
Number of pages3
JournalBlood Coagulation and Fibrinolysis
Volume23
Issue number6
DOIs
Publication statusPublished - Sep 2012
Externally publishedYes

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