Two siblings with m ild hemorrhagic symptoms had combined functional deficiencies of vitamin K-dependent clotting factors. Prothrombin (0.18-0.20 U/ml) and Stuart factor (Factor X, 0.18-0.20 U/ml) and Stuart factor (Factor X, 0.18-0.20 U/ml) were most severely affected. Antigenic amounts of affected coagulation factors were normal and normal generation of thrombin activity occurred in the patients' plasmas after treatment with nonophysiologic activators that do not require calcium for prothrombin activation. Hepatobilary disease, malabsorptive disorders, and plasma warfarin were not present. Both parents had normal levels of all coagulation factors. The patients' plasmas contained prothrombin that reacted both with antibody directed against des-gamma-carboxyprothrombin and native prothrombin. Crossed immunoelectrophoresis of patients' plasmas and studies of partially purified patient prothrombin suggested the presence of a relatively homogeneous species of dysfunctional prothrombin, distinct from the heterologous species found in the plasma of warfarin-treated persons. These studies are most consistent with a posttranslational defect in hepatic carboxylation of vitamin K-dependent factors. This kindred uniquely possesses an aut...Continue Reading
Comparison of high-performance liquid chromatography and a spectrophotometric technique for determining plasma warfarin
Defective esterase and kinin-forming activity in human Fletcher trait plasma. A fraction rich in kallikreinlike activity
Defective activation of clotting, fibrinolytic, and permeability-enhancing systems in human Fletcher trait plasma
Characterization of a variant prothrombin in a patient congenitally deficient in factors II, VII, IX and X
Decrease in protein C antigen and formation of an abnormal protein soon after starting oral anticoagulant therapy
Compound heterozygosity of novel missense mutations in the gamma-glutamyl-carboxylase gene causes hereditary combined vitamin K-dependent coagulation factor deficiency
Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders
Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene
Inherited deficiency of multiple vitamin K-dependent coagulation factors and coagulation inhibitors presenting as hemorrhagic diathesis, mental retardation, and growth retardation
The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation
Homozygosity mapping of a second gene locus for hereditary combined deficiency of vitamin K-dependent clotting factors to the centromeric region of chromosome 16.
Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase
Gamma-glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.
γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins.
GGCX mutations show different responses to vitamin K thereby determining the severity of the hemorrhagic phenotype in VKCFD1 patients.
Blood Clotting Disorders
Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.