PDF(Pubmed)
Abstract：
Background-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. Content-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.
摘要：
背景-这篇综述提供了罕见贫血的全面概述，强调他们的遗传和后天原因，诊断进步，和不断发展的治疗策略。它概述了罕见贫血在公共卫生中的重要性，认识和治疗方面的历史挑战，以及ENERCA和EuroBloodNet等欧洲倡议在推进护理方面的作用。内容-本文讨论了下一代测序等诊断技术以及人工智能的影响，除了基因治疗的有希望的途径，靶向药物治疗,和干细胞移植。它强调了为患者量身定制方法的重要性，诊断工具的进步，以及继续研究的必要性，病人的倡导，和国际合作，以改善患有罕见贫血的个人的结果。
