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Congenital dyserythropoietic anemia type IV in the genetic era: A rare neonatal case report of rapid identification with a review of the literature
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  • Sarah Blain,
  • Marc-Olivier Deguise,
  • Ewurabena Simpson,
  • Mira Liebman,
  • Emanuela Ferretti
Sarah Blain
University of Ottawa Faculty of Medicine

Corresponding Author:sarah.blain@umontreal.ca

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Marc-Olivier Deguise
University of Ottawa Faculty of Medicine
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Ewurabena Simpson
University of Ottawa Faculty of Medicine
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Mira Liebman
University of Ottawa Faculty of Medicine
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Emanuela Ferretti
University of Ottawa Faculty of Medicine
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Abstract

Congenital dyserythropoietic anemia type IV (CDAIV) is a rare inherited hematological disorder presenting severe anemia due to altered erythropoiesis and hemolysis, with variable needs for recurrent transfusions. We present a case of a transfusion-dependant male newborn who required an intrauterine transfusion and presented at birth with severe hemolytic anemia. Genetic testing rapidly identified a KLF1 gene mutation, a CDAIV variant. This case highlights the advantages of next-generation sequencing testing for congenital hemolytic anemia: diagnostic speed, guidance on natural history, and optimized clinical management and anticipatory guidance for parents and clinicians. We reviewed the literature for all CDAIV cases.
06 Oct 2022Submitted to Pediatric Blood & Cancer
06 Oct 2022Submission Checks Completed
06 Oct 2022Assigned to Editor
10 Oct 2022Reviewer(s) Assigned
19 Nov 2022Review(s) Completed, Editorial Evaluation Pending
21 Nov 2022Editorial Decision: Revise Major
08 Dec 2022Submission Checks Completed
08 Dec 2022Assigned to Editor
08 Dec 20221st Revision Received
08 Dec 2022Review(s) Completed, Editorial Evaluation Pending
08 Dec 2022Reviewer(s) Assigned
11 Jan 2023Editorial Decision: Accept