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A family of inherited antithrombin III (AT III) deficiency was reported. Propositus was a 42-year-old man with 10-year history of deep vein thrombosis and cerebral thromboembolism.AT III was assayed for his family members in three consecutive generations by single radial immunodiffusion, electroimmunoassay by Laurell, progressive antithrombin activity by thrombin clotting time and chromogenic assay using S-2238. A significant decrease of plasma AT III levels with low activity was found in 8 (47%) out of 17 members investigated. Five (63%) of them had recurrent episodes of deep vein thrombosis of extremities and/or cerebral thromboembolism, mesenterial thrombosis and pulmonary embolism. In two dimensional crossed immunoelectrophoresis, mobility of their AT III in the heparinized agarose gel was identical with that of normal control. Thus, the family is classified as type I by Nagy or type Ia by Sas.
- 一般社団法人 日本血栓止血学会の論文
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