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Congenital dyserythropoietic anaemia type II in a teenager presenting with severe anaemia
  1. Christopher Jude Pinto1,
  2. Mohith H Narayanaswamy1,2,
  3. Ameet Vasantrao Khatawkar1 and
  4. Jana Poornima1
  1. 1Department of Internal Medicine, Karnataka Institute of Medical Sciences, Hubballi, Karnataka, India
  2. 2Department of Internal Medicine, Sri Devaraj Urs Academy of Higher Education and Research, Kolar, Karnataka, India
  1. Correspondence to Dr Christopher Jude Pinto; christopherjudepinto{at}


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 β-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 β-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 β-thalassaemia .

  • Emergency medicine
  • Haematology (incl blood transfusion)
  • Intensive care
  • Paediatric intensive care
  • Pathology

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  • Contributors CJP: manuscript preparation, literature review, primary physician. MHN: case identification and diagnosis. AVK: guide and director, manuscript editing, literature review. JP: manuscript preparation, response to reviewer comments, editing and literature review.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.