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 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.