Modeling Diamond-Blackfan Anemia in the Mouse: Disease Pathogenesis and Evaluation of Novel Therapies
Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia that presents early in infancy. The main hematopoietic symptoms include macrocytic anemia with reticulocytopenia and selective absence of erythroid precursors in a normocellular bone marrow. In addition to the hematopoietic symptoms, DBA is characterized by the presence of physical abnormalities and cancer predisposition. Mutations
