Prevalence of protein C deficiency in the healthy population.

摘要: Reported prevalence rates for protein C (PC) deficiency in the population at large have varied widely. The differences presumably reflect existence of an apparently high number clinically recessive forms deficiency. In attempt to document more precisely PC healthy we measured activity just under 10,000 blood donors West Scotland. After repeat testing with low results and then further observation selection, 32 were identified who had individual mean activities below age- gender-specific study reference range. Assessment available first degree relatives, also gene analysis 23 these donors, allowed identification least 14 inheritable (8 by both family analysis, 3 alone alone). Two recurring seven unique point mutations, only one which has been previously described, identified. observed inherited was 1.45 per 1000 (95% Cl, 0.79/1000 2.43/1000). However after correcting possibility missing some genuine deficiencies estimated be as 1 500. All cases hereditary asymptomatic regard thrombosis none a strong history thrombosis. These findings confirm rather frequent occurrence individuals support hypothesis that additional defects anticoagulant pathways may required confer high-thrombotic-risk phenotype.