PDF(Pubmed)
Abstract：
Sickle cell disease is an orphan disease affecting ethnic minorities and characterized by profound systemic manifestations. Although around 100,000 individuals with SCD are living in the US, the exact number of individuals is unknown, and it is considered an orphan disease. This single-gene disorder leads to red blood cell sickling and the deoxygenation of hemoglobin, resulting in hemolysis. SCD is associated with acute complications such as vaso-occlusive crisis, infections, and chronic target organ complications such as pulmonary disease and renal failure. While genetic therapy holds promise to alter the fundamental disease process, the major challenge in the field remains the target end organ damage and ways to mitigate or reverse it. Here, we provide an overview of the clinical manifestations and pathogenesis with a focus on end-organ damage and current therapeutic options, including recent FDA-approved stem cell and gene editing therapies.
摘要：
镰状细胞病是一种影响少数民族的孤儿疾病，其特征是深刻的系统性表现。尽管大约有100,000名患有SCD的人生活在美国，个体的确切数量是未知的，它被认为是一种孤儿病。这种单基因紊乱导致红细胞镰状和血红蛋白的脱氧,导致溶血。SCD与血管闭塞危象等急性并发症有关,感染,和慢性靶器官并发症，如肺部疾病和肾功能衰竭。虽然基因疗法有望改变基本的疾病过程，该领域的主要挑战仍然是目标末端器官损伤以及减轻或逆转它的方法。这里,我们提供了临床表现和发病机制的概述，重点是终末器官损伤和当前的治疗选择，包括最近FDA批准的干细胞和基因编辑疗法。
