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Association of severe haemophilia A and factor V Leiden: report of three cases
Author(s) -
ARRUDA VALDER R.,
ANNICHINOBIZZACCHI JOYCE M.,
ANTUNES SANDRA V.,
COSTA FERNANDO F.
Publication year - 1996
Publication title -
haemophilia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.213
H-Index - 92
eISSN - 1365-2516
pISSN - 1351-8216
DOI - 10.1111/j.1365-2516.1996.tb00011.x
Subject(s) - medicine , haemophilia , protein c , clotting factor , factor v leiden , incidence (geometry) , risk factor , population , factor v , haemophilia a , thrombosis , factor ix , gastroenterology , immunology , pediatrics , venous thrombosis , physics , environmental health , optics
Summary. 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.