Severe bleeding in a woman heterozygous for the fibrinogen gammaR275C mutation.
Blood Coagul Fibrinolysis
; 21(5): 494-7, 2010 Jul.
Article
em En
| MEDLINE
| ID: mdl-20386430
ABSTRACT
The dysfibrinogen gammaR275C 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 gamma chain gene mutation resulting in an amino acid substitution at residue 275 (gammaR275C). Protein sequencing of the fibrinogen gamma chain confirmed this mutation, which was named Fibrinogen Portland I. This case demonstrates that the gammaR275C mutation can lead to a severe hemorrhagic phenotype.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Fibrinogênios Anormais
/
Mutação de Sentido Incorreto
/
Menorragia
Limite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Blood Coagul Fibrinolysis
Assunto da revista:
ANGIOLOGIA
/
HEMATOLOGIA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Estados Unidos