Stathakis N E, Papayannis A G, Antonopoulos M, Gardikas C
Acta Haematol. 1977;57(1):47-54. doi: 10.1159/000207859.
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.
报道了一个希腊家族,其遗传性抗凝血酶III(AT III)缺乏与静脉血栓形成相关。该家族中有5名成员患病。在这些患者中,AT III和肝素辅因子活性降低。免疫反应性AT III与AT III和肝素辅因子活性均呈正相关。α2-巨球蛋白和α1-抗胰蛋白酶正常。该缺陷的遗传模式为常染色体显性遗传。