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Causes
By Mayo Clinic staffHereditary hemochromatosis is caused by a mutation in a gene that controls the amount of iron your body absorbs from the food you eat. The mutations that cause hereditary hemochromatosis are passed from parents to children.
Gene mutations that cause hemochromatosis
The gene that is mutated most often in people with hereditary hemochromatosis is called HFE. You inherit one HFE gene from each of your parents. If both parents pass mutated HFE genes to you, you may develop hemochromatosis. The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these mutations in your HFE gene.
- If you inherit two abnormal genes, you may develop hemochromatosis. Not everyone with two abnormal genes develops signs and symptoms of hemochromatosis. You can also pass the mutation on to your children.
- If you inherit one abnormal gene, you won't develop hemochromatosis. But your body may absorb more iron than normal. You are considered a gene mutation carrier and can pass the mutation on to your children.
How hemochromatosis affects your organs
Iron plays an essential role in several body functions, including helping with the formation of blood. Most people absorb about 10 percent of the iron they ingest. When these stores are adequate, the body reduces the amount of iron absorbed by the intestine to avoid accumulating excess amounts.
But if you have hereditary hemochromatosis, you may absorb as much as 30 percent of the iron you ingest. Because your body can't use or eliminate this extra iron, it's stored in the tissues of major organs, especially your liver. Eventually you may accumulate five to 20 times as much iron as normal. Over a period of years, the stored iron can severely damage many organs, leading to organ failure and chronic diseases such as cirrhosis and diabetes.
Other types of hemochromatosis
Other forms of hemochromatosis include:
- Juvenile hemochromatosis. This causes the same problems in young people that hereditary hemochromatosis causes in adults. But iron accumulation begins much earlier and symptoms usually appear between the ages of 15 and 30. Although juvenile hemochromatosis is an inherited disease, the genetic abnormalities that cause it don't involve the HFE gene. Instead, it's caused by a mutation in a gene called hemojuvelin.
- Neonatal hemochromatosis. In this severe disorder, iron builds up rapidly in a baby's liver and can cause death.
- Bacon BR, et al. Hemochromatosis. In: Feldman M, et al. Sleisinger and Fordtran's Gastrointestinal and Liver Disease. 9th ed. Philadelphia, Pa.: Saunders; 2010. http://www.mdconsult.com/book/player/linkTo?type=bookHome&isbn=978-1-4160-6189-2&eid=4-u1.0-B978-1-4160-6189-2..X0001-7--TOP&uniq=200844987-3. Accessed Aug. 17, 2010.
- Hemochromatosis. National Institute of Diabetes and Digestive and Kidney Diseases. http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.htm. Accessed Aug. 17, 2010.
- Hemochromatosis. National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/health/dci/Diseases/hemo/hemo_all.html. Accessed Aug. 19, 2010.
- Naqvi BH, et al. Hemochromatosis. In: Ferri FF. Ferri's Clinical Advisor 2011. Philadelphia, Pa.: Mosby; 2010. http://www.mdconsult.com/book/player/book.do?method=display&type=aboutPage&decorator=header&eid=4-u1.0-B978-0-323-05610-6..C2009-0-38600-6--TOP&isbn=978-0-323-05610-6&uniq=210978719. Accessed Aug. 17, 2010.
- Desferal (prescribing information). East Hanover, N.J.: Novartis; 2009. http://www.accessdata.fda.gov/drugsatfda_docs/label/2009/016267s045lbl.pdf. Accessed Aug. 19, 2010.
- Exjade (prescribing information). East Hanover, N.J.: Novartis; 2010. http://www.accessdata.fda.gov/drugsatfda_docs/label/2010/021882s010lbl.pdf. Accessed Aug. 18, 2010.
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