| Popis: |
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. |
