Abstract
The dysfibrinogen γR275C can be a clinically silent mutation, with only two out of 17 cases in the literature reporting a hemorrhagic presentation and four cases reporting a thrombotic presentation. We describe here a particularly severe presentation in 54-year-old female patient who required a hysterectomy at 47 years of age due to heavy menstrual bleeding. Coagulation studies revealed a prolonged prothrombin time and thrombin time, a normal fibrinogen antigen level, and a low fibrinogen activity level. Molecular analysis of the patient's DNA revealed a γ chain gene mutation resulting in an amino acid substitution at residue 275 (γR275C). Protein sequencing of the fibrinogen γ chain confirmed this mutation, which was named Fibrinogen Portland I. This case demonstrates that the γR275C mutation can lead to a severe hemorrhagic phenotype.
Original language | English (US) |
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Pages (from-to) | 494-497 |
Number of pages | 4 |
Journal | Blood Coagulation and Fibrinolysis |
Volume | 21 |
Issue number | 5 |
DOIs | |
State | Published - Jul 2010 |
Keywords
- Fibrinogen
- hemorrhage
- mutation
ASJC Scopus subject areas
- Hematology