The clinical severity of haemophilia is usually related to residual clotting factor activity. Reports of factor V deficiency or protein C have been described in haemophilic patients and both are involved in the activated protein C pathway. Recently, the poor response to activated protein C due to factor V Leiden (FQ506) has been associated with an increased risk of thrombosis and its incidence in the normal population is given as 2-7%. We describe three cases of severe haemophilia A heterozygous for factor V Leiden and its influence on phenotype.21515
Factor VIII and factor V are clotting proteins acting as cofactors respectively for factor IX in the...
Background and Objectives. The clinical expression of factor V Leiden varies widely within and betwe...
We investigated the role of thrombophilic mutations as possible modifiers of the clinical phenotype ...
Several inherited prothrombotic risk factors have been identified so far. Among them, the factor V (...
The classification of factor VIII deficiency, generally used based on plasma levels of factor VIII, ...
Two patients from two unrelated families with a history of thrombosis showed severe plasma activated...
There is considerable variability in bleeding patterns of severe haemophilia (<1% factorVIII). Knowl...
Heterozygous carriers of factor V (FV) Leiden who also carry FV deficiency often develop venous thro...
There is considerable variability in bleeding patterns of severe haemophilia (<1% factor VIII). K...
Combined plasminogen deficiency and resistance to activated protein C defect (factor V Leiden) have ...
We investigated the role of thrombophilic mutations as possible modifiers of the clinical phenotype ...
We report a thrombotic family with combined type I antithrombin deficiency and factor V Leiden (fact...
R506Q (FV Leiden) mutation in exon 10 of the factor V (FV) gene is highly prevalent in European popu...
Increased concentration of activated protein C (APC) has been observed in patients with thromboembol...
Activated protein C resistance (APC-R) due to the single-nucleotide polymorphism factor V Leiden (FV...
Factor VIII and factor V are clotting proteins acting as cofactors respectively for factor IX in the...
Background and Objectives. The clinical expression of factor V Leiden varies widely within and betwe...
We investigated the role of thrombophilic mutations as possible modifiers of the clinical phenotype ...
Several inherited prothrombotic risk factors have been identified so far. Among them, the factor V (...
The classification of factor VIII deficiency, generally used based on plasma levels of factor VIII, ...
Two patients from two unrelated families with a history of thrombosis showed severe plasma activated...
There is considerable variability in bleeding patterns of severe haemophilia (<1% factorVIII). Knowl...
Heterozygous carriers of factor V (FV) Leiden who also carry FV deficiency often develop venous thro...
There is considerable variability in bleeding patterns of severe haemophilia (<1% factor VIII). K...
Combined plasminogen deficiency and resistance to activated protein C defect (factor V Leiden) have ...
We investigated the role of thrombophilic mutations as possible modifiers of the clinical phenotype ...
We report a thrombotic family with combined type I antithrombin deficiency and factor V Leiden (fact...
R506Q (FV Leiden) mutation in exon 10 of the factor V (FV) gene is highly prevalent in European popu...
Increased concentration of activated protein C (APC) has been observed in patients with thromboembol...
Activated protein C resistance (APC-R) due to the single-nucleotide polymorphism factor V Leiden (FV...
Factor VIII and factor V are clotting proteins acting as cofactors respectively for factor IX in the...
Background and Objectives. The clinical expression of factor V Leiden varies widely within and betwe...
We investigated the role of thrombophilic mutations as possible modifiers of the clinical phenotype ...