Contributor: Gordon K. Klintworth
Hemochromatosis type I is a specific form of primary hemoschromatosis [hemochromatosis - primary]. This type of hemochromatosis is an inherited disease of iron metabolism characterized by increasing levels of iron absorption that lead to tissue damage in the pancreas, liver, heart, and pituitary gland. It is one of the most common inherited autosomal recessive diseases in persons of Northern European origin and results from mutations in the HFE gene. Known mutations in the HFE gene include Cys282Tyr and His63Asp. The Cys282Tyr mutation is common in Caucasians. It affects ~1 in 400 persons and has a carrier frequency of 1 in 10. This specific mutation accounts for 80-100% of cases of hemochromatosis type I in different populations. The relationship between the His63Asp mutation and hemochromatosis is uncertain. It becomes manifest in mid-adulthood . These complications include cardiac disease, failure of endocrine glands (bronze diabetes, hypogonadism, hypopituitarism), liver disease (liver cirrhosis, hepatocellular carcinoma [carcinoma - hepatocellular]), arthropathy, and skin pigmentation. The differential diagnosis includes hemochromatosis - type II, hemochromatosis - type III, and the various conditions with iron overloading that cause secondary hemachromatosis [hemochromatosis - secondary] (such as thalassemia, sideroblastic anemia [anemia - sideroblastic], iron overload from cooking in iron pots, excessive ethanol ingestion). The iron absorption in hemochromatosis type I is less than in hemochromatosis type II. Hemochromatosis can be diagnosed by the presence of stainable iron in a liver biopsy. Treatment includes iron depletion by repeated phlebotomies. In the absence of therapy iron overload lead to death at a premature age.