Congenital factor XI deficiency: an update.

@article{Duga2013CongenitalFX,
  title={Congenital factor XI deficiency: an update.},
  author={Stefano Duga and O Salomon},
  journal={Seminars in thrombosis and hemostasis},
  year={2013},
  volume={39 6},
  pages={621-31}
}
Severe factor XI (FXI) deficiency is an injury-related bleeding disorder, common in Ashkenazi Jews (with two mutations prevailing), but rare worldwide (with heterogeneous mutations). In the past two decades, more than 220 mutations in the FXI gene have been reported in patients with FXI deficiency, of which 7 showed a founder effect. Inhibitors to FXI were described in patients with null-allele mutations, following exposure to plasma, FXI concentrates, or anti-RhD immunoglobulin. Treatment of… CONTINUE READING

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