Haemostasis and Thrombosis Centre, Guy's and St Thomas' NHS Foundation Trust, London, UK.
Katherine Dormandy Haemophilia and Thrombosis Centre, Royal Free London NHS Foundation Trust, London, UK.
Br J Haematol. 2020 May;189(3):400-407. doi: 10.1111/bjh.16311. Epub 2020 Jan 3.
The foundation of haemophilia A therapy in the last 35 years has been critically dependent on isolation of the Factor VIII (FVIII) protein and discovery of the cDNA sequence of the FVIII gene, published in 1984. Identification of the FVIII sequence resulted in a new era of recombinant concentrates and led to significant improvements in safety, set against the tragedy of widespread HIV and hepatitis infections in haemophilia patients from contaminated plasma-based products. We chronicle the scientific methods and race leading up to the publication of the FVIII DNA sequence and the legacy that follows through to revolutionary gene therapy treatment in clinical trials today.
在过去的 35 年中，血友病 A 治疗的基础主要依赖于因子 VIII（FVIII）蛋白的分离和 FVIII 基因 cDNA 序列的发现，该发现于 1984 年公布。FVIII 序列的鉴定开创了重组浓缩物的新时代，并显著提高了安全性，而此前血友病患者因使用受污染的血浆基产品而面临广泛的 HIV 和肝炎感染的悲剧。我们记录了导致 FVIII DNA 序列发表的科学方法和竞赛，以及通过今天临床试验中的革命性基因治疗治疗所带来的遗产。
