In summary, this suggests that DBA based on specific GATA1 defects is characterized by macrocytic anemia, with neutropenia in a significant number of patients, and specific bone marrow cytomorphological abnormalities, including dyserythropoiesis, dysmegakaryopoiesis with micromegakaryocytes and fragmented megakaryocytes. This evidence concerns the gene GATA1 and Decreased total neutrophil count.