{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:40:18Z","timestamp":1756291218217,"version":"3.44.0"},"reference-count":16,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,1,27]]},"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:p>Congenital dyserythropoietic anaemia (CDA) type II is a rare disease characterised by inefficient erythropoiesis and mononuclear cytopenia. Patients generally present with extravascular haemolytic anaemia, jaundice and splenomegaly. A female patient in her mid-teens presented with severe anaemia and abdominal distention. Medical history was significant for the diagnosis of \u03b2-thalassaemia intermedia made in her infancy. However, subsequent investigations showed normal reticulocyte counts that were disproportionate to the severity of her anaemia and a negative \u03b2-thalassemia mutation analysis, leading to concerns about a specific lineage disorder. A bone marrow trephine showed features typical of CDA type II-erythroid hyperplasia with multiple binucleate erythrocytes. CDA type II has often been mistaken for other congenital or acquired forms of anaemia; this case report intends to raise awareness among clinicians to consider CDA type II as a rare but possible cause of severe anaemia in a teenager with a previous presumptive diagnosis of \u03b2-thalassaemia .<\/jats:p>","DOI":"10.1136\/bcr-2022-251756","type":"journal-article","created":{"date-parts":[[2023,2,7]],"date-time":"2023-02-07T12:12:14Z","timestamp":1675771934000},"page":"e251756","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Congenital dyserythropoietic anaemia type II in a teenager presenting with severe anaemia"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8625-2342","authenticated-orcid":false,"given":"Christopher Jude","family":"Pinto","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Karnataka Institute of Medical Sciences, Hubballi, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohith H","family":"Narayanaswamy","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Karnataka Institute of Medical Sciences, Hubballi, Karnataka, India"},{"name":"Department of Internal Medicine, Sri Devaraj Urs Academy of Higher Education and Research, Kolar, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ameet Vasantrao","family":"Khatawkar","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Karnataka Institute of Medical Sciences, Hubballi, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Poornima","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Karnataka Institute of Medical Sciences, Hubballi, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,2,7]]},"reference":[{"key":"2025082703143771000_16.2.e251756.1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-05-468223"},{"key":"2025082703143771000_16.2.e251756.2","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2003-02-0613"},{"key":"2025082703143771000_16.2.e251756.3","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s12308-010-0073-5","article-title":"Congenital dyserythropoietic anemia type II (CdA II) diagnosed in an adult patient","volume":"3","author":"Tandon","year":"2010","journal-title":"J Hematopathol"},{"key":"2025082703143771000_16.2.e251756.4","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.1007\/s00277-017-3116-5","article-title":"Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations","volume":"96","author":"Kedar","year":"2017","journal-title":"Ann Hematol"},{"key":"2025082703143771000_16.2.e251756.5","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2009.014563"},{"key":"2025082703143771000_16.2.e251756.6","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1002\/ajh.25058","article-title":"Multi-Gene panel testing improves diagnosis and management of patients with hereditary anemias","volume":"93","author":"Russo","year":"2018","journal-title":"Am J Hematol"},{"key":"2025082703143771000_16.2.e251756.7","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/s00277-004-0892-5","article-title":"Congenital dyserythropoietic anemias: epidemiology, clinical significance, and progress in understanding their pathogenesis","volume":"83","author":"Heimpel","year":"2004","journal-title":"Ann Hematol"},{"key":"2025082703143771000_16.2.e251756.8","unstructured":"Hershko C , Izak G . 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