Division of Hematology, Brigham and Women's Hospital, 75 Francis Street, Mid-campus 3, Boston, MA 02115, USA.
Expert Rev Hematol. 2012 Jun;5(3):303-11. doi: 10.1586/ehm.12.20.
Sickle cell disease (SCD) is a severe genetic disorder of hemoglobin causing vaso-occlusion. Patients suffer severe anemia, strokes, renal failure, pulmonary compromise and shortened life expectancy. Over 90,000 people in the USA have SCD, and the options for therapy are limited and only partially effective. With the available therapies - hydroxyurea, blood transfusion, hydration and pain medicines - patients continue to suffer the long-term complications of the disease. This review focuses on the pathogenesis of SCD and the role of fetal hemoglobin in disrupting the polymerization of sickle hemoglobin. The authors review the compounds that induce fetal hemoglobin: hydroxyurea, which is currently US FDA approved, and the histone deacetylase inhibitors and discuss their role in the treatment of SCD and other β-hemoglobinopathies.
镰状细胞病(SCD)是一种严重的血红蛋白遗传疾病,可导致血管阻塞。患者患有严重贫血、中风、肾衰竭、肺部受损和预期寿命缩短。美国有超过 90,000 人患有 SCD,治疗选择有限且仅部分有效。通过现有的治疗方法——羟基脲、输血、水化和止痛药物——患者仍在遭受该疾病的长期并发症。这篇综述重点介绍了 SCD 的发病机制以及胎儿血红蛋白在扰乱镰状血红蛋白聚合中的作用。作者回顾了诱导胎儿血红蛋白的化合物:羟基脲,这是目前美国食品和药物管理局批准的,以及组蛋白去乙酰化酶抑制剂,并讨论了它们在 SCD 和其他β-血红蛋白病治疗中的作用。