Abstract
A factor V506 Arg-Gln mutation is the most common inherited cause of thrombophilia in adults. To date, there are no data regarding the detection of this mutation in neonatal blood or the relationship of this dysfunctional factor V to neonatal thrombosis. This study compared a modified activated protein C resistance functional assay with the PCR-based DNA assay for the factor V mutation in 115 prospectively collected umbilical cord blood samples. The incidence of activated protein C resistance in cord blood was 6%. The sensitivity and specificity of the modified assay for the factor V Leiden mutation was 100%.
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Abbreviations
- APCR:
-
activated protein C resistance
- APTT:
-
partial thromboplastin time
References
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Supported by Grant 5 MO1 RR00069 from the General Clinical Research Centers Program for National Center for Research Resources, National Institutes of Health, and the Cancer Center and The Children's Hospital Research Institute, The Children's Hospital, Denver, Colorado. S.P.H. is the recipient of a Blood/ASH Scholar Award.
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Sifontes, M., Nuss, R., Hunger, S. et al. Correlation between the Functional Assay for Activated Protein C Resistance and Factor V Leiden in the Neonate. Pediatr Res 42, 776–778 (1997). https://doi.org/10.1203/00006450-199712000-00009
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DOI: https://doi.org/10.1203/00006450-199712000-00009
