Hemochromatosis in Heterozygotes

Abstract

Hemochromatosis, first described more than 100 years ago, is a common inherited disorder of iron metabolism in people of European descent.¹ Nonetheless, it has been much underdiagnosed and misdiagnosed, in part because of an earlier belief that it was a variant of alcoholic cirrhosis and also because its symptoms were confused with those of other diseases (e.g., alcoholic liver disease and arthritis) and its expression varies in affected persons. Hemochromatosis is inherited as an autosomal recessive trait and is manifested by increased absorption of dietary iron, resulting in increased saturation of serum transferrin, elevated serum ferritin concentrations, and excess iron . . .