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 Citations (Scopus)

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

Fingerprint

Fibrinogen
Hemorrhage
Mutation
Thrombin Time
Prothrombin Time
Protein Sequence Analysis
Amino Acid Substitution
Hysterectomy
Phenotype
Antigens
DNA
Genes

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

Severe bleeding in a woman heterozygous for the fibrinogen γr275C mutation. / Rein, Chantelle M.; Anderson, Brian L.; Ballard, Morgan M.; Domes, Christopher M.; Johnston, Joshua M.; Madsen, Russell Jared; Wolper, Kathryn K M; Terker, Andrew S.; Strother, John M.; Deloughery, Thomas; Farrell, David.

In: Blood Coagulation and Fibrinolysis, Vol. 21, No. 5, 07.2010, p. 494-497.

Research output: Contribution to journalArticle

Rein, CM, Anderson, BL, Ballard, MM, Domes, CM, Johnston, JM, Madsen, RJ, Wolper, KKM, Terker, AS, Strother, JM, Deloughery, T & Farrell, D 2010, 'Severe bleeding in a woman heterozygous for the fibrinogen γr275C mutation', Blood Coagulation and Fibrinolysis, vol. 21, no. 5, pp. 494-497. https://doi.org/10.1097/MBC.0b013e3283393c7c
Rein CM, Anderson BL, Ballard MM, Domes CM, Johnston JM, Madsen RJ et al. Severe bleeding in a woman heterozygous for the fibrinogen γr275C mutation. Blood Coagulation and Fibrinolysis. 2010 Jul;21(5):494-497. https://doi.org/10.1097/MBC.0b013e3283393c7c
Rein, Chantelle M. ; Anderson, Brian L. ; Ballard, Morgan M. ; Domes, Christopher M. ; Johnston, Joshua M. ; Madsen, Russell Jared ; Wolper, Kathryn K M ; Terker, Andrew S. ; Strother, John M. ; Deloughery, Thomas ; Farrell, David. / Severe bleeding in a woman heterozygous for the fibrinogen γr275C mutation. In: Blood Coagulation and Fibrinolysis. 2010 ; Vol. 21, No. 5. pp. 494-497.
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