Kaufman Randal J, Powell Jerry S
1Degenerative Disease Research, Center for Neuroscience, Aging, and Stem Cell Research, Sanford Burnham Medical Research Institute, La Jolla, CA; and.
Hematology Am Soc Hematol Educ Program. 2013;2013:30-6. doi: 10.1182/asheducation-2013.1.30.
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.
血友病是由一种凝血蛋白功能缺陷引起的。在过去40年里，没有其他任何一组遗传疾病的治疗取得了像血友病这样的进展，从1970年出生时患有严重血友病的男孩预期寿命约20岁，到2013年通过目前的预防性治疗基本达到正常预期寿命。然而，这些治疗费用昂贵，每周需要静脉输注3至4次。对于血友病来说，这是令人兴奋的时期，因为几种有望延长因子产品半衰期、有可能改善血友病患者生活质量的新技术正处于临床后期开发阶段。
