Vellanki Sruthi, Thalambedu Nishanth, Kumar Anup Kumar Trikannad Ashwini, Vellanki Sravya, Honhar Medhavi, Hendrix Rachel, Harris Denese, Gaddam Mamatha, Singh Sunny R K, Jain Shivi, Kumaran Muthu, Gentille Cesar, Varma Ankur
Division of Hematology-Oncology, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.
Division of Myeloma, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA.
Diagnostics (Basel). 2025 Jul 21;15(14):1835. doi: 10.3390/diagnostics15141835.
Sickle cell disease (SCD) is a prevalent genetic disorder caused by a mutation in the beta-globin gene. Hyperhemolysis (HS) is a severe complication involving the rapid destruction of both transfused and endogenous red blood cells, commonly found in SCD. This literature review explores the clinical presentation, diagnosis, pathogenesis, and management of HS in SCD. HS can manifest acutely or in a delayed manner, complicating diagnosis due to overlapping symptoms and varying reticulocyte responses. Immunohematological assessments often reveal delayed positivity in direct antiglobulin tests and antibody screens. HS typically presents severe anemia, jaundice, hemoglobinuria, and hemodynamic instability. Diagnostic markers include elevated bilirubin and lactate dehydrogenase levels alongside a reduced reticulocyte count. The management of HS is primarily empirical, with no clinical trials to support standardized treatment protocols. First-line treatments involve steroids and intravenous immunoglobulins (IVIG), which modulate immune responses and mitigate hemolysis. Refractory cases may require additional agents such as rituximab, eculizumab, tocilizumab, and, in some instances, plasma exchange or erythropoietin-stimulating agents. Novel therapeutic approaches, including bortezomib and Hemopure, have shown promise but require further investigation. Current management strategies are empirical, underscoring the need for robust clinical trials to establish effective treatment protocols that ultimately improve outcomes for SCD patients experiencing HS.
镰状细胞病（SCD）是一种由β-珠蛋白基因突变引起的常见遗传性疾病。高溶血（HS）是一种严重并发症，涉及输注的和内源性红细胞的快速破坏，常见于SCD。这篇文献综述探讨了SCD中HS的临床表现、诊断、发病机制和管理。HS可急性发作或延迟发作，由于症状重叠和网织红细胞反应不同而使诊断复杂化。免疫血液学评估通常显示直接抗球蛋白试验和抗体筛查呈延迟阳性。HS通常表现为严重贫血、黄疸、血红蛋白尿和血流动力学不稳定。诊断标志物包括胆红素和乳酸脱氢酶水平升高以及网织红细胞计数降低。HS的管理主要是经验性的，没有临床试验支持标准化治疗方案。一线治疗包括类固醇和静脉注射免疫球蛋白（IVIG），它们可调节免疫反应并减轻溶血。难治性病例可能需要其他药物，如利妥昔单抗、依库珠单抗、托珠单抗，在某些情况下还需要进行血浆置换或促红细胞生成素刺激剂。包括硼替佐米和Hemopure在内的新型治疗方法已显示出前景，但需要进一步研究。目前的管理策略是经验性的，强调需要进行有力的临床试验以建立有效的治疗方案，最终改善患有HS的SCD患者的预后。
