Diamond-Blackfan anemia (DBA) is a genetically and clinically heterogeneous disorder
characterized by erythroid failure, congenital anomalies, and a predisposition to cancer.
Faulty ribosome biogenesis, resulting in proapoptotic erythropoiesis leading to erythroid
failure, is hypothesized to be the underlying defect. The genes identified to date that are
mutated in DBA all encode ribosomal proteins associated with either the small or large
subunit and in these cases haploinsufficiency gives rise to the disease. Extraordinarily …