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Updated: Mar 20, 2026

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
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Factor V A4070G (His1299Arg) mutation in Turkish pediatric patients with thrombosis

Arzu Ulu, Erkan Yılmaz, Ece Akar

    Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology
    |June 7, 2016
    PubMed

    Insights

    The factor V (FV) A4070G mutation does not appear to increase the risk of pediatric thrombosis or stroke. Further research is needed to explore its role alongside other genetic factors.

    Area of Science:

    • Genetics
    • Pediatric Thrombosis
    • Molecular Biology

    Background:

    • Activated protein C resistance is a key factor in thrombosis.
    • Prothrombotic mutations, including factor V (FV) G1691A and FV A4070G, are implicated in thrombosis.
    • The specific role of the FV A4070G mutation in pediatric thrombosis requires further investigation.

    Purpose of the Study:

    • To determine the association between the FV A4070G mutation and pediatric thrombosis.
    • To evaluate the independent and combined effects of FV A4070G with other prothrombotic mutations.

    Main Methods:

    • Case-control study design.
    • Inclusion of 314 pediatric patients with thrombosis (including 111 with stroke) and 127 healthy controls.
    • Genotyping for the FV A4070G mutation and assessment of combined effects with other prothrombotic mutations.

    Main Results:

    • The FV A4070G mutation was not found to be a significant risk factor for pediatric stroke (OR = 1.04, 95% CI: 0.56-1.93, p=0.884).
    • Analysis included both independent and combined effects of the FV A4070G mutation with other prothrombotic mutations.

    Conclusions:

    • The FV A4070G mutation alone does not appear to be a risk factor for pediatric thrombosis, particularly stroke.
    • Additional research is necessary to elucidate the role of FV A4070G in conjunction with other risk factors, such as those within the HR2 haplotype.

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