PDF(Pubmed)
Abstract：
Sickle cell disease (SCD) is an autosomal recessive genetic disorder characterized by the abnormal formation of sickle hemoglobin (HbS). Under conditions of deoxygenation, HbS undergoes polymerization, resulting in microvascular occlusion, tissue hypoxia, and infarction. The elevated mortality rate associated with SCD is primarily attributed to complications such as sepsis, acute chest syndrome, stroke, acute multiorgan failure, and pulmonary hypertension. Despite advancements in awareness and treatments, preventing mortality in young individuals with SCD remains a formidable challenge. In an effort to shed light on these challenges, we present a case of unexpected death associated with SCD to emphasize the pressing need for continued research and intervention strategies to improve patient outcomes.
摘要：
镰状细胞病（SCD）是一种常染色体隐性遗传疾病，其特征是镰状血红蛋白（HbS）的异常形成。在脱氧条件下,HbS经历聚合,导致微血管闭塞，组织缺氧，和梗塞。与SCD相关的死亡率升高主要归因于并发症，如败血症，急性胸部综合征,中风,急性多器官衰竭,和肺动脉高压。尽管在意识和治疗方面取得了进步，预防年轻SCD患者的死亡仍然是一项艰巨的挑战.为了揭示这些挑战，我们介绍了一例与SCD相关的意外死亡病例,以强调迫切需要持续的研究和干预策略来改善患者预后.
