Congenital dyserythropoietic anemia type IV in the genetic era: A rare neonatal case report of rapid identification with a review of the literature.
CDAN4
KLF1
congenital dyserythropoeitic anemia
congenital hemolytic anemia
genetic testing
hydrops fetalis
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
05 2023
05 2023
Historique:
revised:
07
12
2022
received:
05
10
2022
accepted:
11
01
2023
pubmed:
18
2
2023
medline:
25
3
2023
entrez:
17
2
2023
Statut:
ppublish
Résumé
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.
Types de publication
Review
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e30245Informations de copyright
© 2023 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals LLC.
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