Article
Fibrinogen Saint-Germain I: a case of the heterozygous Aalpha GLY 12 --> VAL fibrinogen variant.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Mar 2002
Mathonnet F, Peltier J Y, Detruit H, de Raucourt E, Alvarez J C, Mazmanian G M, de Mazancourt P
Abstract excerpt
A fibrinogen variant was suspected based on the results of routine coagulation tests in a 2-year-old asymptomatic child. Coagulation studies showed marked prolongation of both the thrombin and reptilase times, and discrepancy was noted between the level of plasma fibrinogen as measured by a kinetic versus immunological determination. Family studies revealed that the father beared the same abnormality. Studies of...
Topics
- Amino Acid Substitution
- Child, Preschool
- Coagulation Protein Disorders
- DNA Mutational Analysis
- Diagnosis, Differential
- Factor V Deficiency
- Family Health
- Female
- Fibrinogens, Abnormal
- Fibrinopeptide A