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 language | English (US) |
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Pages (from-to) | 613-615 |
Number of pages | 3 |
Journal | Blood Coagulation and Fibrinolysis |
Volume | 22 |
Issue number | 7 |
DOIs | |
State | Published - Oct 2011 |
Keywords
- fibrinogen/fibrin
- gene mutation
- venous thrombosis
ASJC Scopus subject areas
- Hematology