Abnormal antithrombin III (antithrombin III "Budapest") as a cause of a familial thrombophilia.
A family with a high incidence of spontaneous thromboembolism has been investigated and those members affected were found to have significantly depressed levels of plasma and serum heparin cofactor activity; i.e., antithrombin III and anti-Xa activity. Further studies revealed that despite a marked diminution of antithrombin III activity in these patients measurement of antithrombin III by immunological techniques showed the levels to be normal. It is concluded that this anomaly represents a defect in the synthesis of the antithrombin III molecule. The abnormality appeared to be inherited but the mode of inheritance could not be determined with the available data.
D000327:Adsorption; D000990:Antithrombin III / Q000378:metabolism; D000991:Antithrombins / Q000032:analysis* / Q000172:deficiency; D001466:Barium Sulfate; D001546:Bentonite; D001780:Blood Coagulation Tests; D001799:Blood Sedimentation; D005170:Factor X / Q000037:antagonists & inhibitors; D005340:Fibrinogen; D005342:Fibrinolysis; D006493:Heparin; D006801:Humans; D008297:Male; D010375:Pedigree; D013917:Thrombin; D013923:Thromboembolism / Q000209:etiology / Q000235:genetics*
D000991:Antithrombins; D001546:Bentonite; D001466:Barium Sulfate; D000990:Antithrombin III; D005170:Factor X; D005340:Fibrinogen; D006493:Heparin; D013917:Thrombin