Schematic representation describing the role of RP and GATA1 mutations during erythropoiesis in DBA. (A) Under normal conditions, long-form GATA1 (GATA1L) induces genes that promote translation and heme synthesis, resulting in adequate red-cell production. (B) In RP-mutant cells, GATA1L induces genes responsible for heme synthesis and translation, but defective ribosomal assembly leads to aberrant erythropoiesis and anemia. (C) Mutated GATA1 results in decreased expression of genes encoding the translational apparatus and heme synthesis despite normal ribosome assembly, resulting in anemia. EB, early basophilic erythroblasts; LB, late basophilic erythroblasts; Pro, proerythroblasts. The figure has been adapted from Figure 7 in the article by O’Brien et al that begins on page 3111.