Severe bleeding in a woman heterozygous for the fibrinogen γr275C mutation

Chantelle M. Rein, Brian L. Anderson, Morgan M. Ballard, Christopher M. Domes, Joshua M. Johnston, Russell Jared Madsen, Kathryn K M Wolper, Andrew S. Terker, John M. Strother, Thomas Deloughery, David Farrell

Research output: Contribution to journalArticle

4 Scopus citations

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 languageEnglish (US)
Pages (from-to)494-497
Number of pages4
JournalBlood Coagulation and Fibrinolysis
Volume21
Issue number5
DOIs
Publication statusPublished - Jul 2010

    Fingerprint

Keywords

  • Fibrinogen
  • hemorrhage
  • mutation

ASJC Scopus subject areas

  • Hematology

Cite this

Rein, C. M., Anderson, B. L., Ballard, M. M., Domes, C. M., Johnston, J. M., Madsen, R. J., ... Farrell, D. (2010). Severe bleeding in a woman heterozygous for the fibrinogen γr275C mutation. Blood Coagulation and Fibrinolysis, 21(5), 494-497. https://doi.org/10.1097/MBC.0b013e3283393c7c