Hemochromatosis

LW Powell, TR Yapp - Clinics in liver disease, 2000 - Elsevier
The association of cirrhosis with diabetes mellitus and bronze skin pigmentation was first
recognized more than a century ago, when the term hemochromatosis (HC) was given to the
condition. Hereditary hemochromatosis, also previously described as genetic or idiopathic
hemochromatosis, is now known to result from an inborn error of iron metabolism leading to
inappropriately increased iron absorption from the diet. The discovery of the
hemochromatosis gene (HFE) and the observation that a single missense mutation, leading …