Patel Zeel Vishnubhai, Prajjwal Priyadarshi, Bethineedi Lakshmi Deepak, Patel Divyakshi J, Khullar Kaarvi, Patel Hinal, Khatri Kanishka, Marsool Mohammed Dheyaa Marsool, Gadam Srikanth, Aleti Soumya, Amir Omniat
Internal Medicine, Medical College Baroda, Baroda, Gujarat, India.
Internal Medicine, Bharati Vidyapeeth University Medical College, Pune, India.
J Blood Med. 2024 Sep 12;15:435-447. doi: 10.2147/JBM.S477507. eCollection 2024.
Sickle cell disease (SCD), the most common autosomal recessive genetic disorder, affects the hemoglobin (Hb) chains in human red blood cells. It is caused by mutations in the β-globin genes, leading to the production of hemoglobin S, which results in the formation of sickle-shaped red blood cells (RBCs). These abnormal cells cause hemolysis, endothelial damage, and small vessel occlusion, leading to both acute and long-term complications. According to the World Health Organization's 2008 estimates, SCD affects approximately 2.28 per 1000 individuals globally. Despite this high prevalence, therapeutic advancements have been slow. For many years, the only FDA-approved medications for managing SCD complications were hydroxyurea and deferiprone. However, recent years have seen the approval of several new therapies, including L-glutamine (2017), voxelotor and crizanlizumab (2019), as well as exagamglogene autotemcel (Casgevy) and lovotibeglogene autotemcel (Lyfgenia) (2023). These treatments have proven effective in managing both the acute and chronic effects of SCD, including hemolytic anemia, chronic pain, stroke, vaso-occlusive crises, and multiple organ damage syndromes. This review explores the mechanisms of action, practical considerations, and side effects of these emerging therapies, drawing from a comprehensive search of databases such as PubMed, Medline, and Cochrane.
镰状细胞病(SCD)是最常见的常染色体隐性遗传病,会影响人类红细胞中的血红蛋白(Hb)链。它由β-珠蛋白基因突变引起,导致血红蛋白S的产生,进而形成镰状红细胞(RBC)。这些异常细胞会导致溶血、内皮损伤和小血管闭塞,引发急性和长期并发症。根据世界卫生组织2008年的估计,全球每1000人中约有2.28人受SCD影响。尽管患病率很高,但治疗进展缓慢。多年来,美国食品药品监督管理局(FDA)批准的用于管理SCD并发症的唯一药物是羟基脲和去铁酮。然而,近年来已有几种新疗法获批,包括L-谷氨酰胺(2017年)、伏洛托珠单抗和克唑单抗(2019年),以及exagamglogene autotemcel(Casgevy)和洛伐替贝洛基因自体细胞疗法(Lyfgenia)(2023年)。这些治疗方法已被证明在管理SCD的急性和慢性影响方面有效,包括溶血性贫血、慢性疼痛、中风、血管闭塞性危机和多器官损伤综合征。本综述通过全面检索PubMed、Medline和Cochrane等数据库,探讨了这些新兴疗法的作用机制、实际考虑因素和副作用。