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Diagnosis of CDA I remains challenging due to its rarity, clinical heterogeneity, and overlapping phenotype with other rare hereditary anemias. In this case series, we present 36 patients with suspected CDA I. A molecular diagnosis was successfully established in 89% of cases, identifying 16 patients with CDA I through the presence of 18 causative variants in the <jats:italic>CDAN1<\/jats:italic> or <jats:italic>CDIN1<\/jats:italic> genes. Transcriptomic analysis of <jats:italic>CDIN1<\/jats:italic> variants revealed impaired erythroid differentiation and disruptions in transcription, cell proliferation, and histone regulation. Conversely, 16 individuals received a different diagnosis, primarily pyruvate kinase deficiency. Comparisons between CDA I and non\u2010CDA I patients revealed no significant differences in erythroblast morphological features. However, hemoglobin levels and red blood cell count differed between the two groups, with non\u2010CDA I subjects being more severely affected. Notably, most patients with severe anemia belonged to the non\u2010CDA I group (82% non\u2010CDA I vs. 18% CDA I), with a subsequent absolute prevalence of transfusion dependency among non\u2010CDA I patients (100% vs. 41.7%). All patients exhibited reduced bone marrow responsiveness to anemia, with a more pronounced effect observed in non\u2010CDA I patients. Erythropoietin levels were significantly higher in non\u2010CDA I patients compared to CDA I patients. However, evaluations of erythroferrone, soluble transferrin receptor, and hepcidin revealed no significant differences in plasma concentration between the two groups.<\/jats:p>","DOI":"10.1002\/ajh.27350","type":"journal-article","created":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T06:34:44Z","timestamp":1714113284000},"page":"1511-1522","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients"],"prefix":"10.1002","volume":"99","author":[{"given":"Roberta","family":"Marra","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II  Naples Italy"},{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Nostroso","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II  Naples Italy"},{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara Eleni","family":"Rosato","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II  Naples Italy"},{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica Maria","family":"Esposito","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II  Naples Italy"},{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"D'Onofrio","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II  Naples Italy"},{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Iscaro","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology University of Naples Federico II  Naples Italy"},{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Gambale","sequence":"additional","affiliation":[{"name":"CEINGE Biotecnologie Avanzate Franco Salvatore  Naples Italy"},{"name":"DAIMedLab UOC Genetica Medica AOU Federico II  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Bruschi","sequence":"additional","affiliation":[{"name":"SOsD Oncoematologia Pediatrica Azienda Ospedaliero Universitaria delle Marche  Ancona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Coccia","sequence":"additional","affiliation":[{"name":"SOsD Oncoematologia Pediatrica Azienda Ospedaliero Universitaria delle Marche  Ancona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Poloni","sequence":"additional","affiliation":[{"name":"Clinica di Ematologia Azienda Ospedaliero Universitaria delle Marche  Ancona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sule","family":"Unal","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology University of Hacettepe  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Romano","sequence":"additional","affiliation":[{"name":"Pediatric Oncology Unit Fondazione Policlinico Universitario A. 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