Factor V A4070G (His1299Arg) mutation in Turkish pediatric patients with thrombosis.

The role of the prothrombotic mutations in pediatric thrombosis are being investigated. Mutations in the factor V gene (FV G1691A and FV A4070G) leading to activated protein C resistance, the main pathological condition in thrombosis and prothrombotic mutations contributing to thrombosis have been identified. The aim of this study is to reveal the role of FV A4070G mutation in pediatric thrombosis. 314 patients with thrombosis at pediatric age including also 111 stroke patients and 127 healthy controls were included to the study. The FV A4070G mutation was evaluated independently and also the combined effects with other prothrombotic mutations were also investigated. In pediatric stroke group FV A4070G was found not to be a risk factor with an OR of 1.04 (CI 95%: 0.56-1.93, p= 0.884). Further studies are needed to study the role of FV A4070G with other risk factors belong to HR2 haplotype.