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首页> 外文期刊>Journal of thrombosis and haemostasis: JTH >A new electrophoretic variant of fibrinogen associated with venous thromboembolism, fibrinogen Bordeaux Aalpha Arg439-->Cys.
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A new electrophoretic variant of fibrinogen associated with venous thromboembolism, fibrinogen Bordeaux Aalpha Arg439-->Cys.

机译：纤维蛋白原与静脉血栓栓塞相关的新型电泳变体，纤维蛋白原Bordeaux Aalpha Arg439-> Cys。

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    摘要

    Family studies show a compelling relationship between certain rare dysfibrinogenemias and the occurrence of venous throm-boembolism [1,2]. The initial diagnosis of such disorders is usually made when the coagulometric fibrinogen level is decreased, but the antigen level is normal and a mutation is found in one of the three fibrinogen genes, FGA, FGB or FGG. We previously described two families with quite normal coagulometric fibrinogen levels that were presented with spontaneous thromboembolism at a young age [3]. In both cases, the plasma fibrinogen had an altered electrophoretic profile as a result of a repeated insertion within FGA in one case, and a FGB truncation in the other. After this first study, we have identified another familial dysfibrinogenemia case by systematic electrophoretic analysis of purified fibrinogen from 168 patients that presented with unexpected thromboembolism at a young age, or that had a family history of thrombosis.
    机译：家庭研究表明，某些罕见的纤维蛋白原性贫血与静脉血栓栓塞的发生之间存在令人信服的关系[1,2]。通常在凝血纤维蛋白原水平降低时对此类疾病进行初步诊断，但抗原水平正常，并且在三个纤维蛋白原基因之一FGA，FGB或FGG中发现突变。我们先前描述了两个家族中凝血纤维蛋白原水平相当正常的家族，这些家族在年轻时就表现出自发性血栓栓塞[3]。在这两种情况下，血浆纤维蛋白原的电泳图谱均发生变化，一种情况是在FGA中反复插入，另一种情况是FGB截短。这项第一项研究之后，我们通过系统电泳分析了168例年轻时表现出意料之外的血栓栓塞或有血栓形成家族史的患者的纯化纤维蛋白原，鉴定了另一例家族性纤维蛋白原缺乏症。

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