Article
Severe hemophilia with mild bleeding phenotype: molecular characterization and global coagulation profile.
Journal of thrombosis and haemostasis : JTH - 1 Apr 2010
Santagostino E, Mancuso M E, Tripodi A, Chantarangkul V, Clerici M, Garagiola I, Mannucci P M
Abstract excerpt
BACKGROUND: Patients with severe hemophilia may show very varied bleeding tendencies, and the reasons for this heterogeneous clinical expression are unclear. The factor VIII/FIX genotype is the main determinant of the residual factor activity; however, different bleeding phenotypes have also been reported in patients sharing the same mutation. Such global coagulation tests as thrombin generation assays are tools...
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