Hydroxyurea in Congenital Erythropoietic Porphyria

Abstract
Congenital erythropoietic porphyria is a defect of uroporphyrinogen III synthase, with accumulation of uroporphyrin I, extreme hemolysis, and photosensitivity1,2. We previously reported the effectiveness of aggressive transfusion in a patient with severe disease3. The excess porphyrins were mostly of erythropoietic origin.