PMID: 7085873Jun 1, 1982Paper

Studies on a family with combined functional deficiencies of vitamin K-dependent coagulation factors

The Journal of Clinical Investigation
G GoldsmithB Furie

Abstract

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

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Citations

May 31, 1984·The New England Journal of Medicine·H A LiebmanB Furie
Aug 1, 1990·British Journal of Haematology·B BrennerU Seligsohn
Mar 1, 1995·The Journal of Small Animal Practice·J D LittlewoodL M Coombes
Jul 16, 2010·Orphanet Journal of Rare Diseases·Mariasanta NapolitanoMario Lapecorella
Aug 12, 2009·Clinics in Laboratory Medicine·Valerie L Ng
Aug 31, 2004·Journal of Thrombosis and Haemostasis : JTH·B Zhang, D Ginsburg
Jan 15, 2009·Haemophilia : the Official Journal of the World Federation of Hemophilia·B W Weston, P E Monahan
Jan 27, 2017·International Journal of Molecular Sciences·Eva Y G De VilderOlivier M Vanakker
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Feb 17, 2021·Journal of Thrombosis and Haemostasis : JTH·Suvoshree GhoshJohannes Oldenburg

Related Concepts

Calcium
Hemophilia B
Factor X Deficiency
Inherited Factor II Deficiency
Immunoelectrophoresis, Two-Dimensional
Kaolin-Cephalin Coagulation Time
Prothrombin
Thrombotest
Vitamin K Deficiency
Gen-Warfarin

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