Acquired and inherited GATA1 mutations contribute to hematological disorders such as Down syndrome acute megakaryoblastic leukemia (AMKL), Diamond-Blackfan anemia, transient myeloproliferative disorder and congenital dyserythropoietic anemias with thrombocytopenia22–27. Here, GATA1 is linked to congenital dyserythropoietic anemia.