Vives Corrons Joan-Lluis
Rare Anaemias and Erythropoietic Disorders Research, Institute for Leukaemia Research Josep Carreras, 08916 Barcelona, Spain.
Ektacytometry Unit, Clinical Centre for Ambulatory Medicine, 08036 Barcelona, Spain.
J Clin Med. 2024 May 29;13(11):3180. doi: 10.3390/jcm13113180.
-This review provides a comprehensive overview of rare anemias, emphasizing their hereditary and acquired causes, diagnostic advancements, and evolving treatment strategies. It outlines the significance of rare anemias within public health, historical challenges in recognition and treatment, and the role of European initiatives like ENERCA and EuroBloodNet in advancing care. -This document discusses diagnostic technologies like next-generation sequencing and the impact of artificial intelligence, alongside the promising avenues of gene therapy, targeted drug treatments, and stem cell transplantation. It underscores the importance of a patient-tailored approach, advances in diagnostic tools, and the necessity for continued research, patient advocacy, and international collaboration to improve outcomes for individuals with rare anemias.
本综述全面概述了罕见贫血症，重点阐述了其遗传和后天病因、诊断进展以及不断演变的治疗策略。它概述了罕见贫血症在公共卫生中的重要性、过去在识别和治疗方面面临的挑战，以及诸如ENERCA和EuroBloodNet等欧洲倡议在推进治疗方面所发挥的作用。
本文讨论了下一代测序等诊断技术以及人工智能的影响，同时还探讨了基因治疗、靶向药物治疗和干细胞移植等有前景的途径。它强调了针对患者的个性化治疗方法的重要性、诊断工具的进步，以及持续开展研究、患者宣传和国际合作以改善罕见贫血症患者治疗效果的必要性。
