Mild bleeding diathesis in a boy with combined severe haemophilia B (C(10400)-->T) and heterozygous factor V Leiden

Haemophilia. 2001 Sep;7(5):511-4. doi: 10.1046/j.1365-2516.2001.00551.x.

Abstract

Haemophilia B patients with factor IX (FIX) activity < 1% are usually characterized by severe bleeding episodes early in life. We report a case of sporadic severe haemophilia B, clinically characterized by mild bleeding diathesis. The presence of anamnestic thrombophlebitis in the patient's mother prompted us to investigate a possible associated hypercoagulable condition. Resistance to activated protein C due to factor V R506Q mutation was present in the mother and in the propositus, in the homozygous and heterozygous form, respectively. Molecular analysis of the FIX gene led to the identification of a nonsense mutation resulting in a stop codon at position 50, previously described and usually responsible for a severe pattern of haemophilia B. The implications of this unusual association are discussed.

Publication types

  • Case Reports

MeSH terms

  • Activated Protein C Resistance / blood
  • Activated Protein C Resistance / complications*
  • Activated Protein C Resistance / genetics
  • Child, Preschool
  • DNA Mutational Analysis
  • Factor V / genetics
  • Family Health
  • Hemophilia B / blood
  • Hemophilia B / complications*
  • Hemophilia B / genetics*
  • Hemorrhage / etiology*
  • Heterozygote
  • Humans
  • Male
  • Point Mutation
  • Thrombophilia / etiology

Substances

  • factor V Leiden
  • Factor V