Homozygous Factor X gene mutations Gly380Arg and Tyr163delAT are associated with perinatal intracranial hemorrhage.

Abstract

Intracranial hemorrhage (ICH) is a severe complication of Factor X (FX) deficiency. We report 6 homozygous patients with central nervous system (ICH) bleeds. Five patients are homozygous for the mutation Gly380Arg and one for the novel deletion Tyr163delAT. We describe the association of these mutations with ICH bleeding. 

Topics

  • Presentations referencing similar topics