Familial thrombosis due to antithrombin III deficiency in a Greek family.
A Greek family with hereditary antithrombin III (AT III) deficiency associated with venous thrombosis is reported. 5 members of the family were affected. In these patients, AT III and heparin cofactor activities were decreased. Immunoreactive AT III showed a positive correlation to both AT III and heparin cofactor activities. alpha2-Macroglobulin and alpha1-antitrypsin were normal. The pattern of inheritance of the defect is autosomal dominant.
D000328:Adult; D000990:Antithrombin III / Q000032:analysis; D000991:Antithrombins / Q000032:analysis / Q000172:deficiency*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D013924:Thrombophlebitis / Q000097:blood / Q000209:etiology* / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000032:analysis; D000511:alpha-Macroglobulins / Q000032:analysis
D000991:Antithrombins; D000515:alpha 1-Antitrypsin; D000511:alpha-Macroglobulins; D000990:Antithrombin III