Article
Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia.
British journal of haematology - 1 Jan 2013
Shapiro Susan E, Phillips Emma, Manning Richard A, Morse Colin V, Murden Sherina L, Laffan Michael A, Mumford Andrew D
Abstract excerpt
Heritable dysfibrinogenaemia (HD) is a rare qualitative disorder of fibrinogen (FGN). To better describe the clinical, laboratory and genotypic spectrum of HD, we evaluated 35 subjects identified at two UK centres using laboratory criteria. 12/35(34%) subjects with HD experienced bleeding (bleeding score >1 at any site), 3/35(9%) thrombosis and 20/35(57%) were asymptomatic. Amongst subjects with bleeding,...
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