Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain

Haemophilia. 2006 Nov;12(6):621-4. doi: 10.1111/j.1365-2516.2006.01315.x.

Abstract

Severe factor X deficiency (<0.01 IU mL(-1)) is a rare disorder producing a major bleeding tendency including umbilical cord, joint and intracranial haemorrhage. We present the first case of a child homozygous for a g.1177T > C missense alteration, predicted to disrupt the catalytic domain, and resulting in severe FX deficiency. The child suffered intracranial haemorrhage and now receives regular prophylaxis with a prothrombin complex concentrate. Our experience and a review of the literature suggest that optimal frequency of dosing is likely to be two or three times weekly and that the risk of thrombosis is very small.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Blood Coagulation Factors / therapeutic use*
  • Catalytic Domain / genetics
  • Child, Preschool
  • Factor X Deficiency / complications
  • Factor X Deficiency / drug therapy
  • Factor X Deficiency / prevention & control*
  • Hemorrhage / drug therapy
  • Hemorrhage / etiology
  • Hemorrhage / prevention & control*
  • Humans
  • Infant
  • Infant, Newborn
  • Mutation / genetics*

Substances

  • Blood Coagulation Factors
  • prothrombin complex concentrates