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Biol Blood Marrow Transplant. 2010 Jan;16(1 Suppl):S12-7. doi: 10.1016/j.bbmt.2009.09.012. Epub 2009 Sep 19.

Congenital disorders of ribosome biogenesis and bone marrow failure.

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Division of Hematology/Oncology, Department of Pediatrics, David Geffen School of Medicine, Los Angeles, California 90095-1752 USA.


Diamond Blackfan anemia (DBA) is a congenital bone marrow (BM) failure syndrome that typically results in macrocytic anemia within the first year of life. DBA is also associated with birth defects, increased incidence of cancer, and other cytopenias. Shwachman-Diamond syndrome (SDS) is a multisystem disease characterized by exocrine pancreatic dysfunction, impaired hematopoiesis, and leukemia predisposition. Other clinical features include skeletal, immunologic, hepatic, and cardiac disorders. Treatment for these BM failure syndromes, including stem cell transplantation (SCT), will be discussed in this review.

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