Franchini Massimo, Mannucci Pier Mannuccio
Department of Transfusion Medicine and Hematology, Carlo Poma Hospital, Mantova, Italy.
Scientific Direction, IRCCS Cà Granda Foundation Maggiore Hospital, Milan, Italy.
Semin Thromb Hemost. 2014 Jul;40(5):571-6. doi: 10.1055/s-0034-1381232. Epub 2014 Jun 9.
Hemophilia A and B are rare inherited bleeding disorders characterized by the deficiency of coagulation factor VIII (FVIII) or factor IX (FIX). While the history of hemophilia dates back to the 2nd century AD, a modern description of hemophilia appeared only at the beginning of the 19th century. The discovery of "antihemophilic globulin" in the middle of the 20th century paved the way to the production of cryoprecipitate and then of FVIII and FIX concentrates. Barring the tragic consequences on the hemophilia community of the transmission of blood-borne viruses by nonvirus inactivated factor concentrates during the 1970s and 1980s, plasma-derived first and recombinant products later revolutionized the treatment of hemophilia through the widespread adoption of home treatment and prophylaxis regimens, which dramatically improved the quality of life and life expectancy of persons with hemophilia during the past decade. This article briefly reviews the most important stages of the management of hemophilia from the past century up to the present days.
甲型和乙型血友病是罕见的遗传性出血性疾病,其特征是凝血因子VIII(FVIII)或因子IX(FIX)缺乏。虽然血友病的历史可追溯到公元2世纪,但对血友病的现代描述直到19世纪初才出现。20世纪中叶“抗血友病球蛋白”的发现为冷沉淀以及后来的FVIII和FIX浓缩物的生产铺平了道路。尽管20世纪70年代和80年代非病毒灭活因子浓缩物传播血源病毒给血友病群体带来了悲惨后果,但后来血浆源性产品和重组产品通过广泛采用家庭治疗和预防方案彻底改变了血友病的治疗方式,在过去十年中显著提高了血友病患者的生活质量和预期寿命。本文简要回顾了从上世纪到现在血友病管理的最重要阶段。