Severe hemophilia with mild bleeding phenotype: molecular characterization and global coagulation profile.

@article{Santagostino2010SevereHW,
  title={Severe hemophilia with mild bleeding phenotype: molecular characterization and global coagulation profile.},
  author={Elena Santagostino and Maria Elisa Mancuso and Armando Tripodi and Veena Chantarangkul and Marigrazia Clerici and Isabella Garagiola and Pier Mannuccio Mannucci},
  journal={Journal of thrombosis and haemostasis : JTH},
  year={2010},
  volume={8 4},
  pages={737-43}
}
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 with which to investigate different coagulation profiles among severe hemophiliacs… CONTINUE READING