Rare deletion from the fibrinogen Bβ gene in a patient with a provoked venous thrombotic event

Blood Coagul Fibrinolysis. 2011 Oct;22(7):613-5. doi: 10.1097/MBC.0b013e328349f1b8.

Abstract

Hypodysfibrinogenemia is characterized by both a qualitative and quantitative deficiency of fibrinogen. Here we report a patient with remote history of bleeding and presents with provoked deep venous thrombosis associated with hypodysfibrinogenemia. Molecular studies identified the presence of fibrinogen Epsom, which was previously reported in a family with pregnancy associated bleeding. This case illustrates the difficulty in linking the genotype and phenotype in patients with defective fibrinogen.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Afibrinogenemia / complications
  • Afibrinogenemia / diagnosis
  • Afibrinogenemia / genetics*
  • Afibrinogenemia / physiopathology
  • Chromatography, Reverse-Phase
  • DNA Mutational Analysis
  • Fibrinogen / genetics*
  • Genotype
  • Hemorrhage / genetics*
  • Humans
  • Male
  • Phenotype
  • Sequence Deletion*
  • Venous Thrombosis / complications
  • Venous Thrombosis / diagnosis
  • Venous Thrombosis / genetics*
  • Venous Thrombosis / physiopathology
  • White People

Substances

  • BBeta fibrinogen
  • Fibrinogen