Division of Hematology & Oncology, Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, OH 45219-0525, USA.
Department of Neurology & Rehabilitation Medicine, University of Cincinnati College of Medicine, Cincinnati, OH 45267-0525, USA.
Exp Biol Med (Maywood). 2023 Aug;248(15):1319-1332. doi: 10.1177/15353702231187646. Epub 2023 Sep 9.
Sickle cell disease (SCD) is an inherited hemoglobinopathy in which affected hemoglobin polymerizes under hypoxic conditions resulting in red cell distortion and chronic hemolytic anemia. SCD affects millions of people worldwide, primarily in Sub-Saharan Africa and the Indian subcontinent. Due to vaso-occlusion of sickled red cells within the microvasculature, SCD affects virtually every organ system and causes significant morbidity and early mortality. The neurological complications of SCD are particularly devastating and diverse, ranging from overt stroke to covert cerebral injury, including silent cerebral infarctions and blood vessel tortuosity. However, even individuals without evidence of neuroanatomical changes in brain imaging have evidence of cognitive deficits compared to matched healthy controls likely due to chronic cerebral hypoxemia and neuroinflammation. In this review, we first examined the biological contributors to SCD-related neurological complications and then discussed the equally important socioenvironmental contributors. We then discuss the evidence for neuroprotection from the two primary disease-modifying therapies, chronic monthly blood transfusions and hydroxyurea, and end with several experimental therapies designed to specifically target these complications.
镰状细胞病(SCD)是一种遗传性血红蛋白病,在缺氧条件下受影响的血红蛋白聚合,导致红细胞变形和慢性溶血性贫血。SCD 影响全球数百万人,主要在撒哈拉以南非洲和印度次大陆。由于镰状红细胞在微血管内发生血管阻塞,SCD 几乎影响所有器官系统,并导致严重的发病率和早期死亡率。SCD 的神经并发症特别具有破坏性和多样性,从明显的中风到隐匿性脑损伤,包括无症状性脑梗死和血管迂曲。然而,即使在脑影像学检查没有神经解剖学改变证据的情况下,与匹配的健康对照组相比,也有认知缺陷的证据,这可能是由于慢性脑缺氧和神经炎症所致。在这篇综述中,我们首先检查了 SCD 相关神经并发症的生物学因素,然后讨论了同样重要的社会环境因素。然后,我们讨论了两种主要的疾病修饰治疗方法——慢性每月输血和羟基脲——的神经保护作用的证据,并以几种旨在专门针对这些并发症的实验性治疗方法结束。