Bull World Health Organ. 1977;55(6):675-702.
This Memorandum discusses the problems and techniques involved in the detection of carriers of haemophilia A (blood coagulation factor VIII deficiency) and haemophilia B (factor IX deficiency), particularly with a view to its application to genetic counselling. Apart from the personal suffering caused by haemophilia, the proper treatment of haemophiliacs places a great strain on the blood transfusion services, and it is therefore important that potential carriers should have precise information about the consequences of their having children.The Memorandum classifies the types of carrier and describes the laboratory methods used for the assessment of coagulant activity and antigen concentration in blood. Particular emphasis is laid on the establishment of international, national, and laboratory (working) standards for factors VIII and IX and their calibration in international units (IU). This is followed by a detailed account of the statistical analysis of pedigree and laboratory data, which leads to an assessment of the likelihood that a particular person will transmit the haemophilia gene to her children. Finally, the problems and responsibilities involved in genetic counselling are considered.
本备忘录讨论了检测甲型血友病（凝血因子 VIII 缺乏症）和乙型血友病（因子 IX 缺乏症）携带者所涉及的问题和技术，特别是着眼于其在遗传咨询中的应用。除了血友病所带来的个人痛苦外，血友病患者的妥善治疗给输血服务带来了巨大压力，因此潜在携带者应准确了解生育子女的后果，这一点很重要。本备忘录对携带者类型进行了分类，并描述了用于评估血液中凝血活性和抗原浓度的实验室方法。特别强调了制定因子 VIII 和 IX 的国际、国家和实验室（工作）标准以及用国际单位（IU）进行校准。接下来详细说明了系谱和实验室数据的统计分析，据此评估特定个体将血友病基因传给其子女的可能性。最后，考虑了遗传咨询中涉及的问题和责任。
