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]. Here, GATA1 is linked to Congenital erythropoietic porphyria.