Abstract
Protein C (PC) is a 62-kDa vitamin K-dependent plasma zymogen which, after activation to serine protease, plays an important role in the physiologic regulation of blood coagulation.
Given that PC is one of the major naturally occurring inhibitors of coagulation, acquired or hereditary deficiencies of this protein result in excessive thrombin generation. As a vast array of mutations are responsible for hereditary PC deficiencies, screening for their presence by DNA testing would require sequencing each entire gene involving numerous exons. Moreover, the knowledge of the gene mutation does not offer any benefit in the treatment of thrombophilic families, so the routine molecular characterization is not indicative. These defects are detected by functional or immunological assays. Measurement of PC activity is essential to identify subjects with both type I and type II PC defects. There is no need to routinely perform PC immunological assays. However, they are useful in order to distinguish type I from type II PC hereditary deficiency.
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Hepner, M., Karlaftis, V. (2013). Protein C. In: Monagle, P. (eds) Haemostasis. Methods in Molecular Biology, vol 992. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-339-8_29
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DOI: https://doi.org/10.1007/978-1-62703-339-8_29
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