In addition to DBA-like diseases [16,17,18,19], variants in GATA1 have been described in patients with X-linked thrombocytopenia with dyserythropoietic anemia (XLTDA), thrombocytopenia [25,26,27], X-linked (macro)thrombocytopenia with or without severe anemia (XLT) [28,29,30], X-linked thrombocytopenia with ß-thalassemia [31], macrocytic anemia and neutropenia [32], congenital erythropoietic porphyria (CEP) [33], as well as in acquired transient myeloproliferative disorder (TMD) and acute megakaryoblastic leukemia (AMKL) associated with Down syndrome [34,35,36,37]. The gene discussed is GATA1; the disease is Congenital erythropoietic porphyria.