GATA1 and anemia (phenotype): On the other hand, the exchange of arginine with tryptophane, instead of glutamine, as in the R216W GATA1 variant, has been described in a patient affected by anemia, splenomegaly, painful photosensitive bullous dermatosis, and hirsutism, a condition also known as congenital erythropoietic purpura [38].