GATA1 variants cause a range of hematological phenotypes, including X-linked thrombocytopenia with or without dyserythropoietic anemia, with several different syndromic manifestations including Diamond Blackfan Anemia, β-thalassemia and congenital erythropoietic porphyria. The gene discussed is GATA1; the disease is Diamond-Blackfan anemia.