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Thromb Haemost 1974; 32(01): 105-115
DOI: 10.1055/s-0038-1647677
DOI: 10.1055/s-0038-1647677
Original Article
Abnormal Antithrombin III (Antithrombin III ‘Budapest’) as a Cause of a Familial Thrombophilia
Further Information
Publication History
Received for publication
21 February 1974
Accepted for publication
10 April 1974
Publication Date:
30 June 2018 (online)
Summary
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.
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