dfa3d4fb1724486ef8a923b0912644bc jcm-13-03180.pdf 61a4b3052c009f7f599c51306c63f00569411fd1 jcm-13-03180.pdf 2af58b2cb6d13cdd27669aeaf9724763a3d248cc88994b6f4b6ca30edfef1568 jcm-13-03180.pdf Title: Understanding Rare Anemias: Emerging Frontiers for Diagnosis and Treatment Subject: 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. Keywords: erythrocytes; anemia; rare diseases; diagnosis; treatment Author: Joan-Lluis Vives Corrons Creator: LaTeX with hyperref Producer: pdfTeX-1.40.25 CreationDate: Wed May 29 09:40:40 2024 CEST ModDate: Wed May 29 09:43:23 2024 CEST Custom Metadata: no Metadata Stream: no Tagged: no UserProperties: no Suspects: no Form: none JavaScript: no Pages: 26 Encrypted: no Page size: 595.276 x 841.89 pts (A4) Page rot: 0 File size: 3626252 bytes Optimized: no PDF version: 1.7 name type encoding emb sub uni object ID ------------------------------------ ----------------- ---------------- --- --- --- --------- RCPJIZ+URWPalladioL-Bold Type 1 Custom yes yes yes 10 0 ZGCIZJ+URWPalladioL-Roma Type 1 Custom yes yes yes 16 0 IUQZBB+URWPalladioL-Ital Type 1 Custom yes yes yes 21 0 XPUSBJ+TimesNewRomanPS-BoldItalicMT Type 1C WinAnsi yes yes no 37 0 BSDWLC+TimesNewRomanPSMT Type 1C WinAnsi yes yes no 40 0 WAVIOZ+wasy7 Type 1 Builtin yes yes yes 57 0 GFAWRG+CMSY10 Type 1 Builtin yes yes yes 62 0 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yes yes yes 485 0 Jhove (Rel. 1.28.0, 2023-05-18) Date: 2025-07-12 02:46:07 CEST RepresentationInformation: jcm-13-03180.pdf ReportingModule: PDF-hul, Rel. 1.12.4 (2023-03-16) LastModified: 2025-07-11 14:59:26 CEST Size: 3626252 Format: PDF Version: 1.7 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 746 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: PageLayout: SinglePage PageMode: UseNone Outlines: Item: Title: Introduction Destination: section.1 Item: Title: Rare Anemias Due to Bone Marrow Failure Destination: section.2 Children: Item: Title: Hereditary BMF Destination: subsection.2.1 Children: Item: Title: Fanconi Anemia (FA) Destination: subsubsection.2.1.1 Item: Title: Diamond Blackfan Anemia (DBA) Destination: subsubsection.2.1.2 Item: Title: Congenital Dyserythropoietic Anemia (CDA) Destination: subsubsection.2.1.3 Item: Title: Sideroblastic Anemias (SAs) Destination: subsubsection.2.1.4 Item: Title: Acquired BMF Destination: subsection.2.2 Children: Item: Title: Acquired Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria Destination: subsubsection.2.2.1 Item: Title: Myelodysplastic Syndromes (MDS) Destination: subsubsection.2.2.2 Item: Title: Rare Anemias Due to Red Blood Cell Defects Destination: section.3 Children: Item: Title: Hereditary RBC Defects Destination: subsection.3.1 Children: Item: Title: Hemoglobinopathies Destination: subsubsection.3.1.1 Item: Title: Thalassemias Destination: subsubsection.3.1.2 Item: Title: Membranopathies Destination: subsubsection.3.1.3 Item: Title: Enzymopathies Destination: subsubsection.3.1.4 Item: Title: Acquired RBC Defects Destination: subsection.3.2 Children: Item: Title: Autoimmune Hemolytic Anemia (AIHA) Destination: subsubsection.3.2.1 Item: Title: Non-Immune Hemolytic Anemia (NIHA) Destination: subsubsection.3.2.2 Item: Title: Rare Anemias Due to Iron Metabolism Defects Destination: section.4 Item: Title: Diagnostic Tools for Rare Anemias: An Update Destination: section.5 Children: Item: Title: Blood Testing and Point-of-Care Enhancement Destination: subsection.5.1 Item: Title: Flow Cytometry Implementation Destination: subsection.5.2 Item: Title: Red Blood Cell Physicochemical Properties Destination: subsection.5.3 Item: Title: Proteomics and Biomarkers Destination: subsection.5.4 Item: Title: Molecular Genetics Destination: subsection.5.5 Children: Item: Title: Quantitative PCR (qPCR) Destination: subsubsection.5.5.1 Item: Title: Next-Generation Sequencing (NGS) Destination: subsubsection.5.5.2 Item: Title: Artificial Intelligence (AI) and Machine Learning Destination: subsection.5.6 Children: Item: Title: Machine Learning Algorithms for Data Analysis Destination: subsubsection.5.6.1 Item: Title: Predictive Analytics for Treatment Outcomes Destination: subsubsection.5.6.2 Item: Title: Genetic Data Analysis Destination: subsubsection.5.6.3 Item: Title: AI’s Integration with Electronic Health Records (EHRs) Destination: subsubsection.5.6.4 Item: Title: Patient Monitoring and Remote Diagnostics Destination: subsubsection.5.6.5 Item: Title: Collaborative Research Platforms Destination: subsubsection.5.6.6 Item: Title: Telemedicine (TM) and Remote Patient Monitoring (RPM) Destination: subsection.5.7 Item: Title: Clinical Decision Support Systems (CDSSs) Destination: subsection.5.8 Item: Title: Current Treatments for Rare Anemias: A Revolution Destination: section.6 Children: Item: Title: Hereditary Rare Anemias Destination: subsection.6.1 Children: Item: Title: Gene Therapy Destination: subsubsection.6.1.1 Item: Title: Targeted Drug Treatments Destination: subsubsection.6.1.2 Item: Title: Recent Advancements in Iron Chelation Therapy Destination: subsubsection.6.1.3 Item: Title: Hematopoietic Stem Cell Transplantation (HSCT) Destination: subsubsection.6.1.4 Item: Title: Acquired Rare Anemias Destination: subsection.6.2 Children: Item: Title: Acquired Aplastic Anemia (aAA) and Pure Red Cell Aplasia (PRCA) Destination: subsubsection.6.2.1 Item: Title: Autoimmune Hemolytic Anemia (AIHA) Destination: subsubsection.6.2.2 Item: Title: Paroxysmal Nocturnal Hemoglobinuria (PNH) Destination: subsubsection.6.2.3 Item: Title: References Destination: section.7 Info: Title: Understanding Rare Anemias: Emerging Frontiers for Diagnosis and Treatment Author: Joan-Lluis Vives Corrons Subject: 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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