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Abnormal antithrombin III (antithrombin III "Budapest") as a cause of a familial thrombophilia

G Sas, G Blaskó, D Bánhegyi

    Thrombosis Et Diathesis Haemorrhagica
    |September 30, 1974
    PubMed

    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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