The Anaemia of Erythropoietic Porphyria

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Abstract
SUMMARY: A case of congenital erythropoietic porphyria was found to have an intermittent haemolytic anaemia. During the haemolytic phase, red‐cell lysates from the patient made type I coproporphyrin on incubation with ALA. In the phase of non‐haemolysis, red‐cell lysates behaved as normal cells, only type III coproporphyrin being produced. There is thus a relationship between haemolytic anaemia in this disease and the disturbance in the uroporphyrinogen isomerase‐porphobilinogen deaminase enzyme complex in the red cell. Red‐cell glucose utilization, ATP stability on incubation of red cells, glutathione and glutathione stability, and glutathione reductase activities showed no abnormalities. The glucose‐6‐phosphatase dehydrogenase activity was slightly increased.