A new family with congenital factor XII deficiency.
The case of a patient with Hageman trait and his family study are reported. Commercial plasma thromboplastin time (PTT) reagents showed a good sensitivity for detecting the plasma defect. By prolonging the incubation time of the mixture containing PTT reagent and factor XII-deficient plasma the abnormal coagulation times were not corrected. Thus, a concomitant Fletcher factor deficiency could be excluded.
D001778:Blood Coagulation Disorders / Q000097:blood / Q000151:congenital / Q000235:genetics*; D001780:Blood Coagulation Tests; D002648:Child; D005174:Factor XII / Q000378:metabolism; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree; D013925:Thromboplastin / Q000378:metabolism
D005174:Factor XII; D013925:Thromboplastin