Cimo P L, Moake J L, Gonzalez M F, Natelson E A, Fox K R
Am J Hematol. 1977;2(4):385-91. doi: 10.1002/ajh.2830020408.
A patient with inherited combined deficiency of factor V and factor VIII is reported, who demonstrated normal levels of factor VIII antigen and plasma cofactor for ristocetin-induced platelet aggregation. The relationship of this condition to classical hemophilia and von Willebrand's disease is discussed. The data presented suggest that multiple loci on at least 2 chromosomes are necessary for the normal expression of factor VIII activity.
报告了1例遗传性Ⅴ因子和Ⅷ因子联合缺乏的患者,其Ⅷ因子抗原水平及瑞斯托霉素诱导的血小板聚集的血浆辅因子水平均正常。讨论了这种情况与经典血友病及血管性血友病的关系。所提供的数据表明,至少2条染色体上的多个基因座对于Ⅷ因子活性的正常表达是必需的。