STEVE TREBING

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Diamond Blackfan Anemia (DBA) was first recognized as a distinct entity in 1938, although it was called “congenital hypoplastic anemia” at that time. Diamond Blackfan Anemia (“DBA”) is a rare inherited bone marrow failure syndrome, characterized by a failure of the bone marrow (the center of the bone where blood cells are made) to produce red blood cells. This failure causes DBA patients to become severely anemic. It is important to note that this anemia is not the result of a deficiency in iron, vitamin B-12, folate, or erythropoietin, which is a blood cell stimulating factor. Although a number of theories regarding the cause of DBA have been proposed, it is now widely accepted that DBA is a ribosomal protein disease. The disorder results from an intrinsic progenitor cell defect in which erythroid progenitors and precursors are highly sensitive to death by apoptosis (self-destruction).