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

Yu Min Shen, Ravi Sarode, Anil Bhogaraju, Stephen Brennan

Research output: Contribution to journalArticle

1 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)613-615
Number of pages3
JournalBlood Coagulation and Fibrinolysis
Volume22
Issue number7
DOIs
StatePublished - Oct 1 2011

Keywords

  • fibrinogen/fibrin
  • gene mutation
  • venous thrombosis

ASJC Scopus subject areas

  • Hematology

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