What are the causes and symptoms of hemochromatosis?
by MedExpert on November 3rd, 2007 Hereditary hemochromatosis is an autosomal recessive condition. This means that individuals with hemochromatosis have inherited an altered (mutated) gene from both of their parents. Affected individuals have two abnormal hemochromatosis genes and no normal hemochromatosis gene. The gene that causes hemochromatosis has been identified, and the most common abnormalities of the gene have been described. The gene is on chromosome 6; it is called HFE. Scientists have not confirmed the function of the normal gene product; they do know that it interacts with the cell receptor for transferrin. Transferrin binds and transports iron in the blood. Because it is an autosomal recessive condition, siblings of individuals who have hemochromatosis are at a 25% risk to also be affected. However, the likelihood that an individual will develop symptoms depends on which gene mutation he or she has as well as environmental factors. The two most common changes in the HFE g
