Böttcher D, Hasler K, Sutor A H, Mair D
Blut. 1976 Jul;33(1):33-40. doi: 10.1007/BF01005210.
A family is described in which 5 out of 8 children had a marked bleeding disorder. The children showed prolonged bleeding times, abnormal platelet retention upon passage of blood through a glass bead column, the Willebrand factor activity as measured by ristocetin in a washed platelet system was low. Factor VIII/von Willebrand factor protein levels were normal even so the factor VIII-procoagulant activity. Even the parents and one child without any bleeding tendency and normal bleeding times had a reduced Willebrand factor activity. In all these patients evidence of an abnormal protein was observed on crossed antigen-antibody electrophoresis indicating a qualitative defect of the factor VIII/von Willebrand factor protein.
有这样一个家庭，8个孩子中有5个患有明显的出血性疾病。这些孩子的出血时间延长，血液通过玻璃珠柱时血小板滞留异常，在洗涤血小板系统中用瑞斯托霉素测量的血管性血友病因子活性较低。尽管因子VIII促凝血活性正常，但VIII因子/血管性血友病因子蛋白水平正常。甚至父母和一个没有任何出血倾向且出血时间正常的孩子也有降低的血管性血友病因子活性。在所有这些患者中，交叉抗原抗体电泳观察到异常蛋白的证据，表明VIII因子/血管性血友病因子蛋白存在定性缺陷。
