抗凝血酶 III 缺乏症
基因病名称(英)
Antithrombin III deficiency
别名(英)
Antithrombin 3 deficiency,Antithrombin deficiency,Antithrombin-III deficiency,AT-III deficiency,THPH7,Thrombophilia due to antithrombin-III deficiency
别名
抗凝血酶 3 缺乏症、抗凝血酶缺乏症、抗凝血酶-III 缺乏症、AT-III 缺乏症、THPH7、抗凝血酶-III 缺乏症引起的血栓形成倾向
统计
reviewed:1; annotated:0
交叉引用
613118,C0272375,D020152
描述(英)
An important risk factor for hereditary thrombophilia, a hemostatic disorder characterized by a tendency to recurrent thrombosis. Antithrombin-III deficiency is classified into 4 types. Type I: characterized by a 50% decrease in antigenic and functional levels. Type II: has defects affecting the thrombin-binding domain. Type III: alteration of the heparin-binding domain. Plasma AT-III antigen levels are normal in type II and III. Type IV: consists of miscellaneous group of unclassifiable mutations.
描述
遗传性血栓形成倾向的一个重要危险因素，一种以血栓形成倾向为特征的止血障碍。抗凝血酶 III 缺乏症分为 4 种类型。I型：以抗原和功能水平降低50%为特征。II型：具有影响凝血酶结合域的缺陷。III型：肝素结合域的改变。II型和III型血浆AT-III抗原水平正常。IV型：由杂类无法分类的突变组成。