Autosomal recessive protein C deficiency is caused by mutations of the PROC gene. In contrast to the dominantly inherited form the mutations are not so severe such that a residual function may persist, and only if two alleles are affected a typical thrombophilia phenotype develops. Heterozygous carriers of those mutations usually have about 50% of the normal protein C activity.
Clinical chemistry allows to distinguish three types of protein S deficiency: Type 1: The protein is reduced in plasma. Type 2: The protein concentration in plasma is normal but its activity reduced.[Error: Macro 'ref' doesn't exist]
When measuring plasma concentration, warfarin and other vitamin K antagonists have to be discontinued sufficiently enough.
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OMIM.ORG article Omim 612304 |