Affiliation:
1. Rare Anaemias and Erythropoietic Disorders Research, Institute for Leukaemia Research Josep Carreras, 08916 Barcelona, Spain
2. Ektacytometry Unit, Clinical Centre for Ambulatory Medicine, 08036 Barcelona, Spain
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.
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