The most recently described and most common inherited defect associated with increased risk of thrombosis is a single point mutation in the factor V gene leading to an activated factor V that is resistant to inactivation by protein C. Phase I will focus on determining the prevalence of APCR (activated protein C resistance) and the factor V mutation; phase II will determine whether the factor V mutation in neonates increased their risk for catheter-related thrombosis. The identification of newborns with the factor V Arg506>Gln mutation, manifest as APC resistance, will help predict infants at higher risk of thromboembolic events throughout their lifetime.
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