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推进生命进程:提高镰状细胞贫血患者生存率的创新方法。

Advancing life: innovative approaches to enhance survival in sickle cell anemia patients.

作者信息

Obeagu Emmanuel Ifeanyi, Adias Teddy Charles, Obeagu Getrude Uzoma

机构信息

Department of Medical Laboratory Science, Kampala International University.

Department of Haematology and Blood Transfusion Science, Faculty of Medical Laboratory Science, Federal University Otuoke, Bayelsa State, Nigeria.

出版信息

Ann Med Surg (Lond). 2024 Sep 4;86(10):6021-6036. doi: 10.1097/MS9.0000000000002534. eCollection 2024 Oct.

Abstract

Sickle cell anemia (SCA) is a severe genetic disorder characterized by the production of abnormal hemoglobin S, leading to the formation of sickle-shaped red blood cells that cause chronic anemia, pain, and organ damage. This review explores recent innovative strategies aimed at improving survival rates and quality of life for SCA patients. Genetic therapies, particularly gene editing with CRISPR-Cas9 and gene therapy using lentiviral vectors, have shown significant potential in correcting the genetic defects responsible for SCA. Clinical trials demonstrate that these approaches can reduce sickle cell crises and minimize the need for blood transfusions by enabling the production of healthy red blood cells. Novel pharmacological treatments such as voxelotor, crizanlizumab, and L-glutamine provide additional mechanisms to prevent hemoglobin polymerization, reduce vaso-occlusive episodes, and decrease oxidative stress, respectively. These therapies offer new hope for patients, particularly those who do not respond adequately to existing treatments. Improved blood transfusion protocols, including automated red cell exchange and advanced donor-matching techniques, have enhanced the safety and efficacy of transfusions, reducing complications like alloimmunization. Comprehensive care models, integrating multidisciplinary care teams, patient education, and telemedicine, have further contributed to better disease management. By providing holistic care that addresses both medical and psychosocial needs, these models improve patient adherence to treatment and overall health outcomes. This review highlights the importance of these innovative strategies and calls for continued research and development to sustain and expand these advancements in SCA care.

摘要

镰状细胞贫血(SCA)是一种严重的遗传性疾病,其特征是产生异常的血红蛋白S,导致镰状红细胞的形成,从而引起慢性贫血、疼痛和器官损伤。本综述探讨了旨在提高SCA患者生存率和生活质量的近期创新策略。基因疗法,特别是使用CRISPR-Cas9的基因编辑和使用慢病毒载体的基因疗法,在纠正导致SCA的基因缺陷方面显示出巨大潜力。临床试验表明,这些方法可以减少镰状细胞危象,并通过使健康红细胞生成来减少输血需求。新型药物治疗,如伏洛昔托、克立唑单抗和L-谷氨酰胺,分别提供了防止血红蛋白聚合、减少血管闭塞性发作和降低氧化应激的额外机制。这些疗法为患者带来了新希望,尤其是那些对现有治疗反应不佳的患者。改进的输血方案,包括自动红细胞置换和先进的供体匹配技术,提高了输血的安全性和有效性,减少了同种免疫等并发症。综合护理模式,整合了多学科护理团队、患者教育和远程医疗,进一步有助于更好地管理疾病。通过提供满足医疗和心理社会需求的全面护理,这些模式提高了患者对治疗的依从性和整体健康结果。本综述强调了这些创新策略的重要性,并呼吁持续进行研究和开发,以维持和扩大SCA护理方面的这些进展。

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