Abstract：
Sickle cell disease (SCD) comprises inherited red blood cell disorders due to a mutation in the β-globin gene (c20A > T, pGlu6Val) and is characterized by the presence of abnormal hemoglobin, hemoglobin S, hemolysis, and vaso-occlusion. This mutation, either in a homozygous configuration or in compound states with other β-globin mutations, leads to polymerization of hemoglobin S in deoxygenated conditions, causing modifications in red blood cell shape, particularly sickling. Vaso-occlusive crisis (VOC) is the hallmark of the disease, but other severe complications may arise from repeated bouts of VOCs. SCD is considered a global health problem, and its incidence has increased in some areas of the world, particularly the Americas and Africa. Management of the disease varies according to the region of the world, mainly due to local resources and socioeconomic status. This review aimed to describe more recent data on SCD regarding available treatment options, especially in Brazil. New treatment options are expected to be available to all patients, particularly crizanlizumab, which is already approved in the country.
摘要：
镰状细胞病（SCD）包括由于β-珠蛋白基因突变而导致的遗传性红细胞疾病（c20A>T，pGlu6Val），其特征是存在异常血红蛋白，血红蛋白S,溶血,血管闭塞.这个突变,无论是在纯合构型或与其他β-珠蛋白突变的复合状态，导致血红蛋白S在脱氧条件下聚合，导致红细胞形状的改变，尤其是镰刀。血管闭塞危象（VOC）是这种疾病的标志，但其他严重的并发症可能来自反复发作的VOCs。SCD被认为是一个全球性的健康问题，它的发病率在世界一些地区有所增加，特别是美洲和非洲。该疾病的管理因世界地区而异，主要是由于当地的资源和社会经济地位。这篇综述旨在描述SCD关于可用治疗方案的最新数据，尤其是在巴西。预计所有患者都将获得新的治疗选择，尤其是crizanlizumab，这个国家已经批准了。
