Influence of Factor V HR2 on Thrombin Generation and Clinical Manifestation in Rare Bleeding Disorders

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Residual platelet factor V ensures thrombin generation in patients with severe congenital factor V deficiency and mild bleeding symptoms.

Coagulation factor V (FV), present in plasma and platelets, is indispensable to thrombin formation, yet patients with undetectable plasma FV seldom experience major bleeding. We used thrombin generation assays to explore the role of platelet FV in 4 patients with severe congenital FV deficiency (3 with plasma FV clotting activity [FV:C] < 1%). When triggered with tissue factor (TF) concentratio...

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Influence of single nucleotide polymorphisms on thrombin generation in factor V Leiden heterozygotes.

Carriership of the factor V (FV) Leiden mutation increases the risk of venous thromboembolism (VTE) ~4-fold, but the individual risk of each FV Leiden carrier depends on several co-inherited risk and protective factors. Under the hypothesis that thrombin generation might serve as an intermediate phenotype to identify genetic modulators of VTE risk, we enrolled 188 FV Leiden heterozygotes (11 wi...

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Association of factor V deficiency with factor V HR2.

BACKGROUND AND OBJECTIVES Factor V HR2 possesses decreased co-factor activity to activated protein C and an increased ratio of factor V1 to factor V2. Factor V HR2 is associated with a mild increase in the risk of venous thromboembolism although not all studies concur on this point. DESIGN AND METHODS Inconsistencies in results of the epidemiological studies may stem from a failure to identif...

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Rare bleeding disorders.

During the haemostatic response, the formation of a primary platelet plug limits bleeding and provides a surface for clotting factors to assemble and become activated. The initial platelet plug is stabilized by fibrin monomers, covalently cross-linked by FXIII, forming a platelets-fibrin thrombus. Defects in platelets as well as inherited deficiencies of coagulation factors including fibrinogen...

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Rare bleeding disorders: genetic, laboratory, clinical, and molecular aspects. Preface.

Welcome to this special issue of Seminars in Thrombosis & Hemostasis. Characteristically, each issue of Seminars in Thrombosis & Hemostasis is theme driven, with each new issue devoted to a particular theme of relevance to thrombosis and hemostasis. The current issue of Seminars in Thrombosis & Hemostasis carries the theme of “Rare Bleeding Disorders” (RBDs) and is an update on a previous issue...

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ژورنال

عنوان ژورنال: Pathophysiology of Haemostasis and Thrombosis

سال: 2006

ISSN: 1424-8832,1424-8840

DOI: 10.1159/000093108