What causes hereditary hemochromatosis?
Hereditary hemochromatosis is an inherited condition. It occurs when a person inherits two copies of a mutation, one from each parent. People with one copy of this mutation are carriers for the condition and usually have little or no excess accumulation of iron. It is estimated that 10% of the population are carriers for hemochromatosis. However, not all people with two genetic mutations develop signs and symptoms of the disorder during their lifetimes.
Main name of condition: Hereditary Hemochromatosis Other names or spellings for Hereditary Hemochromatosis: Haemochromatosis, familial, bronzed cirrhosis, bronze diabetes, familial hemochromatosis, genetic hemochromatosis, haemochromatosis, HC, hemochromatoses, HH, HLAH, iron storage disorder, pigmentary cirrhosis, primary hemochromatosis, Troisier-Hanot-Chauffard syndrome, Von Recklenhausen-Applebaum disease
Hereditary hemochromatosis is an inherited, autosomal recessive disorder of iron absorption and metabolism. The term autosomal recessive refers to a genetic state in which there are two copies of a gene mutation on a particular chromosome. This, in turn, usually results in a phenotypic expression, or clinical signs, of the disorder or disease. A major advance in our understanding of the genetics of hereditary hemochromatosis occurred in 1996, when researchers mapped the HFE gene (located on chromosome 6) that is associated with iron absorption. Two mutations (genetic alterations or variants) of the HFE gene, known as C282Y and H63D, were found to be associated with the increased absorption and storage of iron that is characteristic of hereditary hemochromatosis. Because hereditary hemochromatosis is an autosomal recessive disorder, an individual must acquire both copies of either of these mutated genes (one from each parent) in order to develop the disorder or be considered at high ris
