UCSF Benioff Children's Hospital Oakland, Oakland, CA.
University of Illinois at Chicago, Chicago, IL.
Exp Hematol. 2023 Jun;122:55-62. doi: 10.1016/j.exphem.2023.02.005. Epub 2023 Mar 16.
Sickle cell disease (SCD) is caused by a mutation of the β-globin gene that results in the production of hemoglobin S (HbS). People with SCD experience anemia, severe acute pain episodes, persistent chronic pain, multiorgan damage, and a reduced life span. The pathophysiology of SCD caused by the polymerization of HbS on deoxygenation results in red cell deformability and the generation of reactive oxygen species (ROS). These 2 factors lead to red cell fragility and hemolysis. Reticulocytosis is an independent predictor of disease morbidity and mortality in SCD. We previously established that humans and mice with SCD exhibit abnormal mitochondrial retention in erythrocytes increasing ROS-associated hemolysis. Here, we investigated the hypothesis that mitochondrial retention and increased ROS are a consequence of stress erythropoiesis. Our results show clearly that stress erythropoiesis in phlebotomized, anemic AA mice results in mitochondrial retention and increased ROS in reticulocytes. We observed that elevated mitochondrial retention in reticulocytes also alters oxygen consumption and potentially contributes to increased HbS polymerization and red blood cell hemolysis. Therefore, these events occurring due to stress erythropoiesis contribute significantly to the pathology of SCD and suggest new therapeutic targets.
镰状细胞病 (SCD) 是由β-珠蛋白基因突变引起的,导致血红蛋白 S (HbS) 的产生。患有 SCD 的人会经历贫血、严重的急性疼痛发作、持续的慢性疼痛、多器官损伤和寿命缩短。由于 HbS 在脱氧时聚合引起的 SCD 的病理生理学导致红细胞变形和活性氧物质 (ROS) 的产生。这两个因素导致红细胞脆弱和溶血。网织红细胞增多症是 SCD 疾病发病率和死亡率的独立预测因素。我们之前已经证实,患有 SCD 的人类和小鼠的红细胞中存在异常的线粒体滞留,从而增加了与 ROS 相关的溶血。在这里,我们研究了这样一个假设,即线粒体滞留和 ROS 增加是应激性红细胞生成的结果。我们的研究结果清楚地表明,在放血贫血的 AA 小鼠中,应激性红细胞生成导致网织红细胞中线粒体滞留和 ROS 增加。我们观察到,网织红细胞中升高的线粒体滞留也改变了氧消耗,并可能导致 HbS 聚合增加和红细胞溶血。因此,由于应激性红细胞生成而发生的这些事件对 SCD 的病理学有重要贡献,并提示了新的治疗靶点。