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Definition

A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.

Acronym

HFE1

Synonyms

Hemochromatosis type 1
Hereditary hemochromatosis
HH
HLAH
Primary hereditary hemochromatosis