Hoffmann J J, Hennis B C, Kluft C, Vijgen M
Department of Clinical Laboratories, Catharina Hospital, Eindhoven, The Netherlands.
Thromb Haemost. 1993 Dec 20;70(6):894-9.
Plasma histidine-rich glycoprotein (HRG) was found to be persistently increased in a patient with a history of recurrent arterial thromboembolic events. The mean concentration was 270% of normal pooled plasma. Increased HRG was found in eight of the 17 relatives studied, but none of them has experienced thrombo-embolism yet. Apparently, increased HRG was hereditary with autosomal dominant inheritance. A significant correlation was found between the increased plasma concentration of the protein and the age of the subjects (P < 0.02), whereas no such relation is present in a normal population. The plasma HRG of the proposita and 9 of her family members displayed abnormal binding to heparin, as assessed in a crossed affinity immuno-electrophoresis system: the usual increase in mobility after binding to heparin was absent. The binding of this variant HRG to plasminogen was normal. This case represents the first abnormal HRG variant reported and it is proposed to designate it: HRG Eindhoven.
在一名有复发性动脉血栓栓塞事件病史的患者中，发现血浆富含组氨酸糖蛋白（HRG）持续升高。平均浓度为正常混合血浆的270%。在17名研究亲属中的8名中发现HRG升高，但他们中尚无一人经历过血栓栓塞。显然，HRG升高具有常染色体显性遗传特征。发现该蛋白的血浆浓度升高与受试者年龄之间存在显著相关性（P < 0.02），而在正常人群中不存在这种关系。先证者及其9名家庭成员的血浆HRG在交叉亲和免疫电泳系统中显示出与肝素的异常结合：与肝素结合后通常的迁移率增加不存在。这种变异型HRG与纤溶酶原的结合正常。该病例代表了首次报道的异常HRG变异体，建议将其命名为：HRG埃因霍温。
