Iron metabolism in Wilson's disease

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Abstract
Eight subjects, 3 of them homozygous and 5 heterozygous for Wilson''s disease, had Fe deficiency or low plasma Fe concentrations of variable degree or both, sometimes associated with anemia. The Fe deficiency was correctable with Imferon. Most of the subjects, including those who were Fe deficient, had low or low-normal levels of transferrin, the Fe-binding globulin. Quantitative ferrokinetic studies using radioactive Fe in 2 of the homozygotes and 1 of the heterozygotes revealed a mild-to-moderate hemolytic process, with compensatory increase in erythropoiesis apparently unrelated to the Fe deficiency, since it persisted when the latter was corrected. The kinetic studies showed no evidence of increased Fe storage such as occurs in hemochromatosis. The combination of Fe deficiency with low or low-normal instead of elevated levels of Fe-binding globulin and the absence of any of the usual causes of hypo-transferrinemia in most of the subjects, as well as the occurrence of these abnormalities in asymptomatic heterozygotes, suggest that they may be related to the primary genetically determined event in Wilson''s disease and that the latter may not be simply defective ceruloplasmin synthesis.

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