GATA1 germline mutations may lead to GATA1-related cytopenia in males, which is characterized by thrombocytopenia and/or anemia ranging from mild to severe, and one or more of the following: platelet dysfunction, mild β-thalassemia, neutropenia, and congenital erythropoietic porphyria [59]. The gene discussed is GATA1; the disease is anemia (phenotype).