Erythropoietic protoporphyria (EPP) results from deficiency of ferrochelatase (FECH). Accumulation of protoporphyrin IX causes life-long acute photosensitivity. Microcytic anemia occurs in 20% to 60% of patients. We investigated 178 patients with dominant EPP confirmed by molecular analysis. Erythropoiesis was impaired in all patients; all had a downward shift in hemoglobin (Hb), and the mean d...

Some enzymes and intermediates of heme synthesis were determined in blood and urine of 26 women with severe iron deficiency anemia (IDA). Erythrocyte free protoporphyrin was almost doubled and delta-aminolevulinate dehydrase significantly raised. But urinary excretion of delta-aminolevulinic acid and reticulocyte ferrochelatase were significantly reduced in iron deficiency anemia. Hence these c...

Zinc protoporphyrin in erythrocytes increases in iron depletion. Because the hematofluorometer directly measures zinc protoporphyrin in whole blood, it may therefore be a useful screening instrument for detecting iron deficiency. We evaluated its performance with normal to slightly above-normal zinc protoporphyrin concentrations (0.2 to 2.0 mg/L) in erythrocytes, because this is a critical rang...

OBJECTIVES To differentiate the porphyrias by clinical and biochemical methods. DESIGN AND METHODS We describe levels of blood, urine, and fecal porphyrins and their precursors in the porphyrias and present an algorithm for their biochemical differentiation. Diagnoses were established using clinical and biochemical data. Porphyrin analyses were performed by high performance liquid chromatogra...