title: Antithrombin III (AT III) Padua2: a "new" congenital abnormality with defective heparin co-factor activities but no thrombotic disease.
abstract: A "new" antithrombin III (AT III) abnormality is described in five members of the same family. None of the affected members showed thrombotic manifestations and no consanguinity was present in the family. The main laboratory features were: normal routine clotting tests, slightly decreased AT III activities in all assays carried out in the presence of heparin. In the absence of heparin, antithrombin III activities were instead within normal limitis. Progressive AT III activity and AT III antigen were also normal. Crossed immunoelectrophoresis in the absence of heparin showed a normal pattern both in plasma and serum. In the presence of heparin, the propositi's plasma showed a major, less anodal, abnormal peak and a smaller normal peak. Three peaks were present in the propositi's serum as compared with the two normal ones. This AT III abnormality is different from AT III Padua previously described by us and we propose the toponym of Antithrombin Padua-2 to define this condition.
mesh_terms: D000328:Adult; D000990:Antithrombin III / Q000032:analysis*; D000013:Congenital Abnormalities / Q000235:genetics*; D005260:Female; D006493:Heparin / Q000502:physiology; D006801:Humans; D007122:Immunoelectrophoresis; D010375:Pedigree
chemical_list: D000990:Antithrombin III; D006493:Heparin