Our subsequent comprehensive review of the cases illustrates that inherited GATA1 defects in exon 2 represent a hematological phenotype that displays distinct characteristics within the DBA spectrum, including (severe) neutropenia and dyserythropoiesis with or without dysmegakaryopoiesis, instead of the typical quantitative intrinsic erythroid defect (hypoplastic anemia). The gene discussed is GATA1; the disease is neutropenia.