ABSTRACT
“Diamond-Blackfan anemia” (DBA) is a single cytopenia, and the term “hypoplastic” is used to refer to partial marrow depression with pancytopenia. The diagnostic criteria for DBA are as follows: normochromic, usually macrocytic but occasionally normocytic anemia developing early in childhood, reticulocytopenia, normocellular bone marrow with selective deficiency of red cell precursors, normal or slightly decreased leukocyte counts, and normal or often increased platelet counts. The major erythropoietic hormone, erythropoietin (EPO), is increased in DBA to levels higher than predicted for the level of the anemia. High levels of inducers, supplied by stimulation of endogenous accessory cells or by contaminants of crude EPO, could overcome a suppressor or compensate for intrinsically defective accessory cells in DBA bone marrow. The variety of descriptive names for what is now preferably called DBA reflect lack of a precise clinical definition and uncertainty regarding the pathophysiology of the disorder.
