A patient with a biochemically "new" type of
congenital erythropoietic porphyria has been studied under various therapeutic trials.
Splenectomy had no demonstrable effect on
porphyrin excretion or clinical picture.
Vitamin E caused a moderate fall in
porphyrin excretion, however, there was no significant improvement in light tolerance and tendency to
hemolysis.
Beta-carotene reduced skin photosensitivity appreciably, while total
porphyrin excretion remained unchanged and the tendency to develop
hemolytic anemia showed only slight improvement. Red cell transfusion caused a rapid, dramatic fall in prophyrin excretion (in 4-5 days) and a transient increase in light tolerance, while the distribution of the different
porphyrins excreted remained unchanged. These observations indicate that all or nearly the abnormal
porphyrins excreted are of erythropoietic origin, and that the overwhelming part of the
porphyrins originate from an abnormal population of shortlived red cells. Findings on fluorescence microscopy of blood and bone marrow support this view. Meticulous protection against light of the shorter wavelengths caused a similar rise in
hemoglobin level as produced by red cell transfusion, however, in this instance the total excretion of
porphyrins did not fall. It is suggested that the inhibitory effect of transfusion on erythropoiesis (and thereby
porphyrin excretion) might be due partly to a depression of
erythropoietin formation, partly to the presence of an erythropoiesis inhibiting factor (chalone) in the transfused red cells.