Green D
Ann Clin Lab Sci. 1980 Mar-Apr;10(2):123-7.
Recent progress in the biochemical characterization of coagulation factors VIII and IX has greatly contributed to our understanding of the inheritance of hemophilia and von Willebrand's disease and facilitated the recognition of carriers of these disorders. Factor VIII is a molecular complex which may be quantitated immunologically as factor VIII-related antigen. Within this complex reside the von Willebrand factor, absent in von Willebrand's disease, and factor VIII procoagulant activity and antigen. Hemophilia is an x-linked disorder; female carriers may be recognized by a disproportionate increase in factor VIII-related antigen or procoagulant antigens in relation to procoagulant activity. Prenatal diagnosis of hemophilia has been accomplished by measurements of clotting activity and antigens in fetal blood. Von Willebrand's disease has been classified on the basis of laboratory abnormalities, the biochemical characteristics of the von Willebrand factor, and its patterns of inheritance. In the most commonly observed form, there is autosomal dominant inheritance, and most patients are heterozygotes. These individuals manifest variably prolonged bleeding times and concordantly reduced activities associated with factor VIII. Rarely, there is an autosomal recessive pattern in which the homozygotes have much more severe clinical disease, including hemathroses. However, the biochemical defects in the von Willebrand factor appear to be quite diverse, defying any simple classification of this disorder.
凝血因子VIII和IX生化特性的最新进展极大地促进了我们对血友病和血管性血友病遗传方式的理解，并有助于识别这些疾病的携带者。因子VIII是一种分子复合物，可通过免疫方法将其作为因子VIII相关抗原进行定量。在这个复合物中存在血管性血友病因子（血管性血友病中不存在该因子）、因子VIII促凝血活性及抗原。血友病是一种X连锁疾病；女性携带者可通过因子VIII相关抗原或促凝血抗原相对于促凝血活性的不成比例增加来识别。血友病的产前诊断已通过检测胎儿血液中的凝血活性和抗原得以实现。血管性血友病已根据实验室异常、血管性血友病因子的生化特性及其遗传模式进行了分类。在最常见的形式中，存在常染色体显性遗传，大多数患者为杂合子。这些个体表现出不同程度延长的出血时间，同时与因子VIII相关的活性降低。极少数情况下，存在常染色体隐性模式，其中纯合子患有更为严重的临床疾病，包括血肿。然而，血管性血友病因子的生化缺陷似乎非常多样，使得对这种疾病进行任何简单分类都很困难。
