A new familial variant of antithrombin III: 'antithrombin III Paris'.

摘要: A 59-year-old woman presented a recurrent history of thromboembolism. qualitative defect antithrombin III (AT III) was suggested by the discrepancy between normal amount AT antigen and decreased heparin cofactor activity. Six members same family showed similar although clinically asymptomatic. The abnormality confirmed two-dimensional immunoelectrophoresis. In absence heparin, single peak obtained with both control patients' plasmas. presence two peaks were observed in plasmas: mobility one to that control, whereas other mobility, suggesting lack binding heparin. populations separated affinity chromatography on heparin-agarose. 50% bound agarose beads. remainder, recovered supernatant, migrated immunoelectrophoresis as or devoid This familial variant characterized reduced for is tentatively named 'Antithrombin Paris'.