Roberta Marra, Antonella Nostroso, Barbara Eleni Rosato, Federica Maria Esposito, Vanessa D'Onofrio, Anthony Iscaro, Antonella Gambale, Barbara Bruschi, Paola Coccia, Antonella Poloni, Sule Unal, Alberto Romano, Achille Iolascon, Immacolata Andolfo, Roberta Russo
Congenital Dyserythropoietic Anemia type I (CDA I) is a rare hereditary condition characterized by macrocytic/normocytic anemia, splenomegaly, iron overload, and distinct abnormalities during late erythropoiesis, particularly internuclear bridges between erythroblasts. Diagnosis of CDA I remains challenging due to its rarity, clinical heterogeneity, and overlapping phenotype with other rare hereditary anemias. In this case series, we present 36 patients with suspected CDA I. A molecular diagnosis was successfully established in 89% of cases, identifying 16 patients with CDA I through the presence of 18 causative variants in the CDAN1 or CDIN1 genes...
April 26, 2024: American Journal of Hematology