Dumont M D, Tapon-Bretaudiere J, Fischer A M, Bros A, Chassevent J, Aufeuvre J P
Br J Haematol. 1987 Jun;66(2):239-43. doi: 10.1111/j.1365-2141.1987.tb01305.x.
A new congenital dysprothrombinaemia is described in a newborn baby girl who presented severe bleeding from the second day of life. Routine coagulation tests showed very prolonged prothrombin time and activated partial thromboplastin time with about 2% prothrombin activity in a one-stage assay. Staphylocoagulase and Echis carinatus venom prothrombin assays were respectively 35% and 25%. The prothrombin antigen level was 47% and its migration in crossed immuno-electrophoresis was abnormal. Family study revealed the presence of both normal and abnormal prothrombin in the plasma of three family members: the father, the mother and the brother. Thrombin generation in a system free from natural inhibitors showed that the abnormal prothrombin was slowly and incompletely activated. The propositus is thought to be homozygous for a 'lazy' dysprothrombin.
本文描述了一名新生女婴患有新型先天性凝血酶原血症，该女婴自出生第二天起便出现严重出血症状。常规凝血检测显示，凝血酶原时间和活化部分凝血活酶时间极长，在单阶段检测中凝血酶原活性约为2%。葡萄球菌凝固酶和锯鳞蝰蛇毒凝血酶原检测分别为35%和25%。凝血酶原抗原水平为47%，其在交叉免疫电泳中的迁移异常。家族研究显示，三名家庭成员（父亲、母亲和哥哥）的血浆中同时存在正常和异常的凝血酶原。在一个不含天然抑制剂的系统中进行的凝血酶生成检测表明，异常凝血酶原激活缓慢且不完全。先证者被认为是“惰性”凝血酶原血症的纯合子。
