American Society of Hematology

Figure 2.

$Analysis of plasma antithrombin (AT) in symptomatic members of the French thrombophilic family (II-3, III-2, and III-3, p.Glu227Lys+/−) and in a control plasma generated with a pool of 100 healthy blood donors. (A) Crossed immunoelectrophoresis in the presence of heparin. Plasma from a patient heterozygous carrier of the p.Arg79Cys variant (AT Toyama), a genetic defect that causes a type II deficiency with heparin-binding site (HBS) defect, was also included. (B) Western blotting of native PAGE in the presence and absence of 5M urea. The aberrant forms of antithrombin detected in the sisters are pointed by red arrows. (C) Western blotting after SDS-PAGE in the presence or absence of thrombin and unfractionated heparin (UFH). Thrombin-antithrombin complexes (T-AT) and antithrombin are pointed by arrows. The anti-FXa and anti-FIIa (heparin cofactor and progressive) activity of the samples evaluated by chromogenic assays is also indicated. (D) Thrombin generated in platelet-poor plasma of 3 symptomatic members of the French thrombophilic family (II-3, III-2, and III-3) and 1 healthy control after triggering the coagulation by 5 pM tissue factor. Thrombin was measured using the CAT method.$

Analysis of plasma antithrombin (AT) in symptomatic members of the French thrombophilic family (II-3, III-2, and III-3, p.Glu227Lys^+/−) and in a control plasma generated with a pool of 100 healthy blood donors. (A) Crossed immunoelectrophoresis in the presence of heparin. Plasma from a patient heterozygous carrier of the p.Arg79Cys variant (AT Toyama), a genetic defect that causes a type II deficiency with heparin-binding site (HBS) defect, was also included. (B) Western blotting of native PAGE in the presence and absence of 5M urea. The aberrant forms of antithrombin detected in the sisters are pointed by red arrows. (C) Western blotting after SDS-PAGE in the presence or absence of thrombin and unfractionated heparin (UFH). Thrombin-antithrombin complexes (T-AT) and antithrombin are pointed by arrows. The anti-FXa and anti-FIIa (heparin cofactor and progressive) activity of the samples evaluated by chromogenic assays is also indicated. (D) Thrombin generated in platelet-poor plasma of 3 symptomatic members of the French thrombophilic family (II-3, III-2, and III-3) and 1 healthy control after triggering the coagulation by 5 pM tissue factor. Thrombin was measured using the CAT method.

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