Description

Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease. Hemochromatosis causes chronic fatigue and bronzed skin pigmentation, with severe tissue damage in the liver, pancreas, joints, bone, endocrine glands, or heart, which results in various complications usually in adulthood including liver fibrosis (cirrhosis with the risk of hepatocellular carcinoma), diabetes mellitus, arthropathy, osteoporosis, hypogonadotropic hypogonadism, and cardiac failure. HH is due to several mutations in genes coding for proteins involved in the regulation of iron homeostasis. Hemochromatosis type 2 is due to HFE2 or HAMP gene (1q21, 19q13) mutations, type 3 to TFR2 (7q22) and type 4 to SLC40A1 (2q32) mutations.

External Information

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