Search for improved therapy of sickle cell anemia.
Search for improved therapy of sickle cell anemia.
复制标题
寻找镰状细胞性贫血的改进疗法。
DOI：
10.1097/00043426-200212000-00002
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发表时间：
2002
期刊：
影响因子：
--
通讯作者：
Nathan,DavidG
中科院分区：
文献类型：
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作者：
Nathan,DavidG
镰状细胞性贫血（SCA）既是现代医学的胜利，也是转化生物医学研究进展缓慢的一个令人沮丧的例子。50年来，我们已经知道SCA的精确分子缺陷，并对血红蛋白的结构和合成及其发育生物学和分子遗传学有了大量的了解。但是，除了干细胞移植之外，还没有治愈性的治疗方法。干细胞移植是一种高风险、极其昂贵的治疗方法，可以治疗许多后天性和先天性造血缺陷。虽然它在大约四分之三的治疗病例中是成功的，但它只适用于大约四分之一的病人。我们对镰状血红蛋白的分子和功能缺陷的理解的历史在该领域的主要贡献者，美国国立卫生研究院的William Eaton最近的一份出版物中进行了精彩的回顾（1）。在这篇精细的综述中，伊顿阐明了研究人员如何深入了解脱氧镰状血红蛋白在SCA中的核心作用。
Sickle cell anemia (SCA) is both a triumph of modern medicine and a frustrating example of the slow pace of translational biomedical research. We have known the precise molecular defect in SCA for 50 years and have learned an enormous amount about the structure and synthesis of hemoglobin and its developmental biology and molecular genetics. But there has been no curative therapy other than stem cell transplantation, a high-risk, enormously expensive cure-all for many of the acquired and congenital defects in hematopoiesis. Although it is successful in about three quarters of treated cases, it is applicable in only about one quarter of patients.The history of our understanding of the molecular and functional defects in sickle hemoglobin has been brilliantly reviewed in a recent publication by a major contributor to the field, William Eaton of the National Institutes of Health (1). In that fine review Eaton illuminates how investigators have gained insight into the central role of deoxy sickle hemoglobin in SCA.