For example the R216Q mutation, which impairs the ability of GATA1 to recruit the TAL1 activating complex, (Campbell et al., 2013), leads to x-linked thrombocytopenia with a beta thalassemia-like anemia (Balduini et al., 2004), while the closely related R216W mutation leads to anemia, thrombocytopenia, and a congenital erythropoietic porphyria phenotype.(Phillips et al., 2007; Di Pierro et al., 2015). The gene discussed is TAL1; the disease is anemia (phenotype).