{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:39:32Z","timestamp":1791859172810,"version":"4.3.4"},"reference-count":59,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T00:00:00Z","timestamp":1715731200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary dyserythropoietic anemias, or congenital dyserythropoietic anemias (CDAs), are rare disorders disrupting normal erythroid lineage development, resulting in ineffective erythropoiesis and monolinear cytopenia. CDAs include three main types (I, II, III), transcription\u2010factor\u2010related forms, and syndromic forms. The widespread use of next\u2010generation sequencing in the last decade has unveiled novel causative genes and unexpected genotype\u2013phenotype correlations. The discovery of the genetic defects underlying the CDAs not only facilitates accurate diagnosis but also enhances understanding of CDA pathophysiology. Notable advancements include identifying a hepatic\u2010specific role of the\n                    <jats:italic>SEC23B<\/jats:italic>\n                    loss\u2010of\u2010function in iron metabolism dysregulation in CDA II, deepening\n                    <jats:italic>CDIN1<\/jats:italic>\n                    dysfunction during erythroid differentiation, and uncovering a recessive CDA III form associated with\n                    <jats:italic>RACGAP1<\/jats:italic>\n                    variants. Current treatments primarily rely on supportive measures tailored to disease severity and clinical features. Comparative studies with pyruvate kinase deficiency have illuminated new therapeutic avenues by elucidating iron dyshomeostasis and dyserythropoiesis mechanisms. We herein discuss recent progress in diagnostic methodologies, novel gene discoveries, and enhanced comprehension of CDA pathogenesis and molecular genetics.\n                  <\/jats:p>","DOI":"10.1111\/ijlh.14307","type":"journal-article","created":{"date-parts":[[2024,5,15]],"date-time":"2024-05-15T08:07:26Z","timestamp":1715760446000},"page":"595-605","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias"],"prefix":"10.1111","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3624-7721","authenticated-orcid":false,"given":"Roberta","family":"Russo","sequence":"first","affiliation":[{"name":"Dipartimento di Medicina Molecolare e Biotecnologie Mediche Universit\u00e0 degli Studi di Napoli \u2018Federico II\u2019  Naples Italy"},{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples 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