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Activated protein C resistance and the factor V Leiden mutation in children with thrombosis
Author(s) -
Sifontes Maria T.,
Nuss Rachelle,
Hunger Stephen P.,
Waters Jill,
Jacobson Linda J.,
MancoJohnson Marilyn
Publication year - 1998
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/(sici)1096-8652(199801)57:1<29::aid-ajh5>3.0.co;2-3
Subject(s) - activated protein c resistance , factor v leiden , thrombosis , protein c , factor v , medicine , venous thrombosis , mutation , gastroenterology , genetics , biology , gene
To determine the prevalence of activated protein C resistance and the factor V Leiden mutation (position 1691, arginine 506 to glutamine substitution) in children with thrombosis, plasma samples from children with thrombosis were tested for activated protein C resistance. DNA was analyzed for the factor V Leiden mutation. Five of 34 children (15%) had activated protein C resistance; each was heterozygous for the factor V Leiden mutation. All 5 children heterozygous for the factor V Leiden mutation suffered non‐CNS venous thromboses comprising 21% of the group of children (5/24) with non‐CNS venous thrombotic events. Each of these 5 children had a family history of thrombosis. In conclusion, children with non‐CNS venous thrombosis should be evaluated for the factor V Leiden mutation. Children most likely affected are those with a family history of thrombosis. Am. J. Hematol. 57:29–32, 1998. © 1998 Wiley‐Liss, Inc.