McGann Patrick T, Nero Alecia C, Ware Russell E
Division of Hematology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Ave, MLC 11027, Cincinnati, OH, 45229, USA.
UT Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, 75063, USA.
Adv Exp Med Biol. 2017;1013:1-26. doi: 10.1007/978-1-4939-7299-9_1.
Sickle cell disease (SCD) and β-thalassemia are among the most common inherited diseases, affecting millions of persons globally. It is estimated that 5-7% of the world's population is a carrier of a significant hemoglobin variant. Without early diagnosis followed by initiation of preventative and therapeutic care, both SCD and β-thalassemia result in significant morbidity and early mortality. Despite great strides in the understanding of the molecular basis and pathophysiology of these conditions, the burden of disease remains high, particularly in limited resource settings. Current therapy relies heavily upon the availability and safety of erythrocyte transfusions to treat acute and chronic complications of these conditions, but frequent transfusions results in significant iron overload, as well as challenges from acquired infections and alloimmunization. Hydroxyurea is a highly effective treatment for SCD but less so for β-thalassemia, and does not represent curative therapy. As technology and use of cellular and gene therapies expand, SCD and thalassemia should be among the highest disease priorities.
镰状细胞病（SCD）和β地中海贫血是最常见的遗传性疾病，全球有数百万人受其影响。据估计，世界5-7%的人口是重要血红蛋白变体的携带者。若不及早诊断并开始预防和治疗，SCD和β地中海贫血都会导致严重发病和过早死亡。尽管在了解这些疾病的分子基础和病理生理学方面取得了巨大进展，但疾病负担仍然很高，在资源有限的地区尤其如此。目前的治疗严重依赖红细胞输血的可及性和安全性来治疗这些疾病的急性和慢性并发症，但频繁输血会导致严重的铁过载，以及获得性感染和同种免疫带来的挑战。羟基脲是治疗SCD的高效药物，但对β地中海贫血的疗效较差，且并非治愈性疗法。随着细胞和基因治疗技术的发展和应用不断扩大，SCD和地中海贫血应成为疾病防治的重中之重。
