title: Fibrinogen Melbourne:  a novel congenital hypodysfibrinogenemia caused by γ326Cys-Phe in the fibrinogen γ chain, presenting as massive splanchnic venous thrombosis.
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.
authors: Department of Haematology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia. ccheah@iinet.net.au
authors: Chan Y
authors: CY
authors: Cheah
authors: Stephen O
authors: SO
authors: Brennan
authors: Hannah
authors: H
authors: Kennedy
authors: Elchanan H
authors: EH
authors: Januszewicz
authors: Ellen
authors: E
authors: Maxwell
authors: Kate
authors: K
authors: Burbury
mesh_terms: D000328:Adult; D000347:Afibrinogenemia / Q000150:complications / Q000235:genetics*; D001315:Australia; D001483:Base Sequence; D004252:DNA Mutational Analysis; D015241:Fibrinogens, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010974:Platelet Aggregation; D013152:Splanchnic Circulation; D013918:Thrombin Time; D020246:Venous Thrombosis / Q000150:complications / Q000235:genetics*
chemical_list: D015241:Fibrinogens, Abnormal; C527521:fibrinogen gamma'