Severe protein C deficiency in congenital thrombotic disease--description of an immunoenzymological assay for protein C determination.
An immunoenzymatic assay (ELISA) is described for the quantitative assay of protein C in plasma. This technique allows a safe, reliable, and sensitive assay of protein C, and is easily used for routine investigation. Using this technique, a protein C deficiency (0.16 U/ml) was discovered in a 16 year old patient with a history of very severe thrombotic disease. Protein C deficiency was also discovered in his mother (0.62 U/ml) and father (0.50 U/ml). We therefore suggest that this case could represent a homozygous deficiency of protein C.
D000293:Adolescent; D000990:Antithrombin III / Q000032:analysis; D001778:Blood Coagulation Disorders / Q000097:blood*; D001780:Blood Coagulation Tests; D005260:Female; D005268:Femoral Vein; D006023:Glycoproteins / Q000032:analysis / Q000172:deficiency*; D006493:Heparin / Q000627:therapeutic use; D006801:Humans; D007124:Immunoenzyme Techniques; D008297:Male; D011486:Protein C; D012016:Reference Values; D013927:Thrombosis / Q000097:blood* / Q000151:congenital / Q000235:genetics
D006023:Glycoproteins; D011486:Protein C; D000990:Antithrombin III; D006493:Heparin