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  • SEC23B missense mutation-associated congenital dyserythropoietic anaemia type II in a child: a rare mimic of chronic haemolytic anaemia

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Case Reports: Rare disease
SEC23B missense mutation-associated congenital dyserythropoietic anaemia type II in a child: a rare mimic of chronic haemolytic anaemia
  1. Md Jasim Alam,
  2. Anusree Krishna Mandal,
  3. Subinay Mandal and
  4. Jadab Kumar Jana
  1. Pediatrics, Bankura Sammilani Medical College Bankura, Bankura, West Bengal, India
  1. Correspondence to Dr Anusree Krishna Mandal; anuskrish95{at}gmail.com

Abstract

We report a case of congenital dyserythropoietic anaemia (CDA) type II in a female child, which is an extremely rare cause of hereditary anaemia. The patient, still in her early childhood, presented to us with transfusion-dependent anaemia, unexplained jaundice, passage of cola-coloured urine and hepatosplenomegaly. Further investigations revealed evidence of iron overload, ineffective erythropoiesis and inadequate bone marrow response. Bone marrow aspiration study demonstrated dyserythropoiesis and findings typical of CDA type II. Targeted exome genome sequencing was done and identified heterozygous missense mutation of the SEC23B gene. CDA, being clinically similar to other more prevalent causes of anaemia, should be kept in mind especially when the common causes have already been ruled out.

  • Congenital disorders
  • Haematology (drugs and medicines)
  • Genetics
  • Pathology

https://doi.org/10.1136/bcr-2022-251092

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    Footnotes

    • Contributors AKM and MJA wrote the initial manuscript, with input from all the authors, and were actively involved in the care of the patient. SM and JKJ reviewed the final manuscript and made other necessary changes.

    • 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.