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 journalArticlepeer-review

14 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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