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Arterial and venous thrombosis in two Italian families with the factor V Arg 506 → Gln mutation
Author(s) -
Montaruli B.,
Voorberg J.,
Tamponi G.,
Borchielli A.,
Muleo G.,
Pannocchia A.,
Mourik J. A.,
Schinco P.
Publication year - 1996
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1996.tb00496.x
Subject(s) - mutation , factor v , thrombophilia , medicine , thrombosis , venous thrombosis , risk factor , coagulopathy , point mutation , stroke (engine) , factor v leiden , myocardial infarction , endocrinology , gastroenterology , genetics , biology , gene , mechanical engineering , engineering
APC resistance, due to a point mutation in factor V at amino acid position Arg 506 , has been identified as a major cause of inherited thrombophilia. Here we report the presence of the factor V Arg 506 →Gln mutation in 2 Italian families. In 1 family 3 subjects heterozygous and 2 subjects homozygous for the factor V Arg 506 → Gln mutation were identified. The only subject who developed a thrombotic event was a 20‐yr‐old girl who was found to be homozygous for the factor V Arg 506 →Gln mutation. In the second family 10 subjects were identified to be heterozygous for the factor V Arg 506 →Gln mutation; among them 2 developed a thrombotic event. In the same family 2 individuals were found to be homozygous for the mutation: the first had a myocardial infarction at age 25 yr and the second suffered from multiple episodes of deep venous thrombosis and had a stroke at age 24 yr. These data show that the risk of developing deep venous thrombosis for the carriers of the factor V Arg 506 →Gln mutation is high in the families investigated. Furthermore our data imply that the factor V Arg 506 →Gln mutation in its homozygous form may relate to myocardial infarction and stroke.