Congenital Dyserythropoietic Anemia Type I in Association with CDAN1 c.2605 G>A Homozygous Mutation.

Congenital dyserythropoietic anemia type 1 (CDA-1) is a rare autosomal recessive disorder. We report the case of a two-year-old female who presented at three days of age with neonatal jaundice and anemia. She subsequently developed persistent, moderate normochromic anemia with relative reticulocytopenia. Bone marrow aspirate demonstrated erythroid hyperplasia and mild dyserythropoiesis. Whole-exome sequencing (WES) identified a homozygous c.2605G>A (p.V869M) mutation in the CDAN1 gene, consistent with the diagnosis of CDA-1. Although this variant has been previously documented in a compound heterozygous state, to the best of our knowledge, this report represents its first identification in a homozygous state in CDA-1. This case underscores the utility of genetic testing in diagnosing CDA-1, particularly when morphological changes are subtle.