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Hematol Oncol Clin North Am. 2009 Apr;23(2):261-82. doi: 10.1016/j.hoc.2009.01.004.

Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.

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  • 1Elmezzi Graduate School of Molecular Medicine, The Feinstein Institute for Medical Research, Manhasset, NY, USA.


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 robust laboratory and clinical investigations have recently led to demonstrable improvements in clinical care for patients with DBA.

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