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 G. Deloughery, David H. 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
StatePublished - Jul 2010

Keywords

  • Fibrinogen
  • hemorrhage
  • mutation

ASJC Scopus subject areas

  • Hematology

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    Rein, C. M., Anderson, B. L., Ballard, M. M., Domes, C. M., Johnston, J. M., Madsen, R. J., Wolper, K. K. M., Terker, A. S., Strother, J. M., Deloughery, T. G., & Farrell, D. H. (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