Degenerative Disease Research, Center for Neuroscience, Aging, and Stem Cell Research, Sanford Burnham Medical Research Institute, La Jolla, CA; and.
Blood. 2013 Nov 21;122(22):3568-74. doi: 10.1182/blood-2013-07-498261. Epub 2013 Sep 24.
Hemophilia is caused by a functional deficiency of one of the coagulation proteins. Therapy for no other group of genetic diseases has seen the progress that has been made for hemophilia over the past 40 years, from a life expectancy in 1970 of ∼20 years for a boy born with severe hemophilia to essentially a normal life expectancy in 2013 with current prophylaxis therapy. However, these therapies are expensive and require IV infusions 3 to 4 times each week. These are exciting times for hemophilia because several new technologies that promise extended half-lives for factor products, with potential for improvements in quality of life for persons with hemophilia, are in late-phase clinical development.
血友病是由凝血蛋白的一种功能缺陷引起的。在过去的 40 年里，没有其他任何一类遗传性疾病的治疗能取得像血友病这样的进展，从 1970 年一个患有严重血友病的男孩的预期寿命约为 20 年，到现在采用预防性治疗，他们的预期寿命几乎与正常人无异。然而，这些治疗方法非常昂贵，每周需要静脉输注 3 到 4 次。目前，血友病领域正处于激动人心的时代，因为有几项新技术有望延长因子产品的半衰期，为血友病患者带来生活质量的改善，它们都处于临床开发的后期阶段。
