Congenital dyserythropoietic anemia type IV in the genetic era: A rare neonatal case report of rapid identification with a review of the literature.

Abstract

Congenital dyserythropoietic anemia type IV (CDAIV) is a rare inherited hematological disorder, presenting with severe anemia due to altered erythropoiesis and hemolysis, with variable needs for recurrent transfusions. We present a case of a transfusion-dependent male newborn who presented at birth with severe hemolytic anemia, and required an intrauterine transfusion. Genetic testing rapidly identified a Kruppel-like factor 1 (KLF1) pathogenic variant (c.973G>A, p.E325K), known to be causative for CDAIV. 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. Additionally, we reviewed the literature for all CDAIV cases.

• Authors: Marc-Olivier Deguise, Sarah Blain, Ewurabena Simpson, Mira Liebman, Emanuela Ferretti
• Journal: Pediatric blood & cancer (Pediatr Blood Cancer) Vol. 70 Issue 5 Pg. e30245 (05 2023) ISSN: 1545-5017 [Electronic] United States
• PMID: 36798023 (Publication Type: Review, Case Reports, Journal Article)
• Copyright: © 2023 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals LLC.

Topics

• Infant, Newborn
• Humans
• Male
• Anemia, Dyserythropoietic, Congenital (diagnosis, genetics, therapy)
• Anemia, Hemolytic, Congenital
• Hematologic Diseases
• Erythropoiesis