Evaluation of the clotting defect in a factor XII-deficient kindred.
A family with factor XII severe congenital deficiency is described. Factor XII activity and factor XII antigen were both undetectable in the propositus plasma; levels of FXII:C and FXII:Ag were intermediate in heterozygotes. Plasma prekallikrein activity was low in the propositus, whereas normal levels of antigen could be found, suggesting a defect of kallikrein activation due to factor XII deficiency.
D001777:Blood Coagulation; D002648:Child; D005174:Factor XII / Q000032:analysis; D005175:Factor XII Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D007610:Kallikreins / Q000097:blood; D008297:Male; D010314:Partial Thromboplastin Time; D010375:Pedigree
D005174:Factor XII; D007610:Kallikreins