Results from porphyrin analyses included the following: erythrocyte protoporphyrin level, 32 μmol/L (reference value, < 1.5 μmol/L; > 90% free protoporphyrin); and fecal protoporphyrin level, 1066 nmol/g of dried feces (reference value, < 100 nmol/g), which allowed for the diagnosis of EPP. The excretion of coproporphyrins in urine was normal. Results from biochemical analysis included the following: aspartate transaminase level, 52 U/L (reference value, < 40 U/L), alanine aminotransferase level, 109 U/L (reference value, < 40 U/L), and γ-glutamyltransferase level, 57 U/L (reference value, < 40 U/L) (to convert to microkatals per liter, multiply by 0.0167); hemoglobin level, 11.5 g/dL (reference range, 12.0-17.0 g/dL) (to convert to grams per liter, multiply by 10); median corpuscular volume, 73 fL (reference range, 80-100 fL); median corpuscular hemoglobin concentration, 22.7 pg (26.7-33.3 pg); serum iron level, 59 μg/dL (reference range, 50-150 μg/dL) (to convert to micromoles per liter, multiply by 0.179); ferritin level, 28 ng/mL (reference range, 15-200 ng/mL) (to convert to picomoles per liter, multiply by 2.247); and soluble transferrin receptor level, −0.089 mg/dL (reference range, 0.083-0.176 mg/dL) (to convert to micromoles per liter, multiply by 0.0123). The appearance of the liver on echography was normal. A hepatic biopsy revealed normal liver architecture and the presence of brown material without birefringence at polarized light. Hemoglobin electrophoresis demonstrated normal percentages of hemoglobin A2 and F, and findings from DNA analysis excluded the thalassemia trait. Bone marrow examination showed normal percentages of the hematopoietic cell lineages with dysplasia signs in the erythroid cells. The bone marrow karyotype was 46,XX.