Castaman G, Ruggeri M, Burei F, Rodeghiero F
Department of Hematology and Hemophilia, San Bortolo Hospital, Vicenza, Italy.
Thromb Res. 1993 Feb 1;69(3):297-305. doi: 10.1016/0049-3848(93)90027-l.
Two new families with history of thrombosis and high levels of histidine-rich glycoprotein (HRG) are described. The propositus of family 1 died of massive pulmonary embolism at age 34. Among his relatives, the mother and the maternal grandmother had suffered from deep and superficial vein thrombosis in their youth. A maternal aunt had several episodes of superficial vein thrombosis (SVT). High levels of HRG were found in the mother, three siblings and two nephews. In the second family, the proposita suffered from spontaneous deep vein thrombosis (DVT) at age 24. The paternal grandmother and a paternal aunt had several episodes of SVT and DVT. Also in this family, high levels of HRG cosegregated with thrombotic symptoms. These new families confirm that genetically transmitted high levels of HRG could be associated to familial and juvenile thrombophilia.
本文描述了两个有血栓形成病史且富含组氨酸糖蛋白（HRG）水平较高的新家族。家族1的先证者在34岁时死于大面积肺栓塞。在他的亲属中，母亲和外祖母年轻时曾患过深静脉和浅静脉血栓形成。一位姨妈有几次浅静脉血栓形成（SVT）发作。在母亲、三个兄弟姐妹和两个侄子中发现了高水平的HRG。在第二个家族中，先证者在24岁时患自发性深静脉血栓形成（DVT）。祖母和一位姑姑有几次SVT和DVT发作。同样在这个家族中，高水平的HRG与血栓形成症状共分离。这些新家族证实，遗传传递的高水平HRG可能与家族性和青少年血栓形成倾向有关。
