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Thromb Haemost 1974; 32(01): 105-115
DOI: 10.1055/s-0038-1647677
Original Article
Schattauer GmbH

Abnormal Antithrombin III (Antithrombin III ‘Budapest’) as a Cause of a Familial Thrombophilia

G Sas
1   First Department of Medicine, Postgraduate Medical School, Budapest, Hungary
,
G Blaskó
1   First Department of Medicine, Postgraduate Medical School, Budapest, Hungary
,
D Bánhegyi
1   First Department of Medicine, Postgraduate Medical School, Budapest, Hungary
,
J Jákó
1   First Department of Medicine, Postgraduate Medical School, Budapest, Hungary
,
L. Á Pálos
1   First Department of Medicine, Postgraduate Medical School, Budapest, Hungary
› Author Affiliations
Further Information

Publication History

Received for publication 21 February 1974

Accepted for publication 10 April 1974

Publication Date:
30 June 2018 (online)

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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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