What changes in the gene lead to hereditary hemochromatosis?
The most common changes in the gene are named C282Y and H63D. These names describe the locations of the changes within the gene. The C282Y change is the most significant. Most people but not all who inherit two copies of the C282Y change will develop hereditary hemochromatosis. Up to one-third of people with two C282Y changes do not develop any symptoms. A person with two H63D changes has less than a 1% chance of developing hereditary hemochromatosis. A person with one C282Y change and one H63D change has about a 5% chance of developing hereditary hemochromatosis. How do you get hereditary hemochromatosis? Every child inherits two hereditary hemochromatosis genes one from each parent. A child who inherits two altered (mutated) copies of the gene will have an increased risk of hereditary hemochromatosis. A person who inherits an altered gene from only one parent will not develop the disease, but can pass the altered gene on to his or her children. How does hereditary hemochromatosis dev