Contributor: Gordon K. Klintworth
Hemochromatosis type II (juvenile hemochromatosis, OMIM # 602390) is a specific rare type of primary hemochromatosis [hemochromatosis - primary] with an autosomal recessive mode of inheritance that leads to a severe iron loading. In the absence of treatment death is usually from cardiac failure or a major arrthythmia before 30 years of age. This type of hemochromatosis has been identified in persons of different ethnic background and males and females are equally affected. This inborn error of iron metabolism is caused by mutations in the HFE2 and most often presents with hypogonadism and cardiopathy. Iron absorption is greater in hemochromatosis type II than in hemochromatosis type I. Increasing levels of iron absorption lead to tissue damage in the pancreas (bronze diabetes), heart, gonads (hypogonadism), pituitary gland (hypopituitarism), liver disease (liver cirrhosis, hepatocellular carcinoma [carcinoma - hepatocellular]), arthropathy, and skin pigmentation. The differential diagnosis includes hemochromatosis type I, hemochromatosis type III and the various conditions with iron overloading that cause secondary hemachromatosis [hemochromatosis - secondary]. Treatment includes iron depletion by repeated phlebotomies and this can prevent organ damage.