Abstract
To the Editor: 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. The patient, who had been dependent on transfusions since birth, is now 18 years old. The base-line hematocrit, maintained initially at 20 percent or higher, was raised to 33 percent or higher by two years of age. The serum porphyrin levels remained at 48 to 76 μg per deciliter. At the age of . . .
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