Lacombe M J, Varet B, Levy J P
Blood. 1975 Nov;46(5):761-8.
This paper reports an asymptomatic coagulation defect responsible for an abnormality at the contact phase of blood coagulation in vitro, distinct from Hageman factor and Fletcher factor deficiencies. Coagulation studies in a 50-yr-old French woman without bleeding tendency revealed the following results: whole-blood clotting time in glass tubes and activated partial thromboplastin time with kaolin and ellagic acid were greatly prolonged; one-stage prothrombin was normal; no circulating anticoagulant was detected, and the infusion of normal plasma corrected the coagulation defect with an estimated half-life of 6.5 days; the levels of factor VIII, IX, XI, and XII were normal; mutual correction was obtained with a Fletcher factor-deficient plasma; the level of whole complement was normal. Studies of the contact phase of blood coagulation and contact-induced fibrinolysis showed the same abnormalities as in Hageman factor- and Fletcher-deficient plasmas. These results indicate that the patient's plasma is deficient in a previously undescribed coagulation factor, which participates in the initial stage of the blood coagulation process in vitro. Family studies revealed consanguinity in the propositus' parents. The assay of this newly described factor in the propositus' children revealed a partial defect, compatible with a heterozygous state, in three of the four tested children. This indicates a recessive inheritance of this new blood coagulation defect.
本文报告了一种无症状性凝血缺陷，该缺陷导致体外血液凝固接触相异常，不同于哈格曼因子和弗莱彻因子缺乏症。对一名无出血倾向的50岁法国女性进行的凝血研究得出以下结果：玻璃管中全血凝固时间以及用高岭土和鞣花酸的活化部分凝血活酶时间大大延长；一期凝血酶原正常；未检测到循环抗凝物质，输注正常血浆可纠正凝血缺陷，估计半衰期为6.5天；因子VIII、IX、XI和XII水平正常；与弗莱彻因子缺乏的血浆相互纠正；全补体水平正常。血液凝固接触相和接触诱导的纤维蛋白溶解研究显示出与哈格曼因子和弗莱彻因子缺乏的血浆相同的异常。这些结果表明，患者血浆中缺乏一种先前未描述的凝血因子，该因子参与体外血液凝固过程的初始阶段。家族研究显示先证者父母近亲结婚。对先证者子女中这种新描述因子的检测显示，在四个受测子女中的三个中存在部分缺陷，符合杂合状态。这表明这种新的血液凝固缺陷为隐性遗传。
