Hemophilia and Thrombosis Treatment Center, Rady Children's Hospital San Diego, San Diego, California, USA.
Department of Pediatrics, Division of Hematology/Oncology, UC San Diego School of Medicine, La Jolla, California, USA.
J Viral Hepat. 2024 Apr;31 Suppl 1:4-8. doi: 10.1111/jvh.13882.
Haemophilia is an inherited bleeding disorder which causes significant morbidity and mortality, especially in the severe form. Prophylaxis with factor replacement has high efficacy in reducing bleeding but is limited by the need for frequent intravenous infusion and fluctuations in haemostasis between doses. Additional prophylaxis therapies are being developed which may overcome some of the current treatment barriers. Gene therapy (GT) is being developed to provide a functional cure such that there is sustained factor expression and minimal to no need for additional haemostatic therapy. There are now two approved gene therapies for haemophilia which may be transformative for many individuals. Benefits of GT should go beyond increasing factor activity and reducing bleeding as persons with haemophilia aim to achieve a 'haemophilia-free mind' and health equity with optimal health and well-being.
血友病是一种遗传性出血性疾病，可导致严重的发病率和死亡率，尤其是在重度血友病患者中。使用因子替代物进行预防治疗可显著降低出血风险，但受到频繁静脉输注和剂量间止血效果波动的限制。目前正在开发其他预防治疗方法，以克服一些当前的治疗障碍。基因治疗（GT）正在开发中，以提供功能性治愈，即持续表达因子，且基本无需额外的止血治疗。目前已有两种批准用于血友病的基因治疗方法，这可能会改变许多患者的生活。GT 的益处不仅应体现在提高因子活性和减少出血方面，还应体现在帮助血友病患者实现“无血友病意识”，并通过最佳的健康和福祉实现健康公平。
