Green D, Philip K J
Thromb Haemost. 1980 Feb 29;43(1):2-5.
30 members of an Illinois kindred were studied with a battery of haemostatic tests including the template bleeding time, platelet retention by glass beads (PRGB), measurement of activities related to factor VIII, and crossed-immunoelectrophoresis (CIEP). 9 family members had a history of excessive bleeding, and all 9 had prolonged bleeding times and increased migration of their factor VIII-related antigen (VIIIR:Ag) on CIEP. Of the other tests performed, the VIII:Ristocetin Cofactor and the PRGB showed the best correlation with the bleeding time. 3 subjects who were not bleeders, but who came from a branch of the family where there were several affected members, also had an abnormal VIIIR:Ag. The pattern of inheritance of the altered VIIIR:Ag in this family was one of autosomal dominance with full penetrance. The CIEP is a valuable screening test for the detection of variant von Willebrand's disease and the recognition of silent heterozygotes.
对伊利诺伊州一个家族的30名成员进行了一系列止血测试，包括模板出血时间、玻璃珠血小板滞留率（PRGB）、与因子VIII相关活性的测定以及交叉免疫电泳（CIEP）。9名家族成员有出血过多的病史，所有9人出血时间延长，且其因子VIII相关抗原（VIIIR:Ag）在CIEP上的迁移增加。在进行的其他测试中，VIII:瑞斯托霉素辅因子和PRGB与出血时间的相关性最好。3名非出血者来自家族中有多名患者的一个分支，他们的VIIIR:Ag也异常。该家族中改变的VIIIR:Ag的遗传模式是完全显性的常染色体显性遗传。CIEP是检测变异型血管性血友病和识别无症状杂合子的有价值的筛查试验。
