What is hemochromatosis?
Recently my mother was diagnosed with hemochromatosis. I was hoping that you could provide me with some information relating to this, as I believe it is a genetic disorder and that it is possible that I may also have it. Is there anything I should do? I am a 22 year old male.
Kudos to you for thinking about the future of your health. Hemochromatosis is a disorder that causes the body to metabolize iron improperly, allowing too much to enter the blood stream. As a result, excess amounts of iron in the blood can be absorbed or stored by the body, causing serious tissue and organ damage if not removed. You’re not wrong about it being a type of genetic disorder. Most people who develop hemochromatosis have inherited a genetic mutation that predisposes them to this disorder, referred to as primary hemochromatosis. However, not all cases of hemochromatosis are inherited (more on that in a bit). In light of your mother’s recent diagnosis, there are, in fact, a few things you can do. You’ve actually pursued one already — in the form of asking for more information on the condition. You might also consider being tested for hemochromatosis due to your family history. And, if you are diagnosed with the condition, there are treatments available and methods of preventing iron overload that can be utilized to help you lead a healthy life moving forward.
First, more on the condition itself: hemochromatosis is among the most common genetic disorder in the United States. Caucasians of Northern European descent are primarily affected and men, more so than women, are most likely to be diagnosed with the disorder. Though inherited mutations are associated with about 90 percent of cases, there are other types of hemochromatosis that are not hereditary. Secondary hemochromatosis is associated with frequent blood transfusions in folks who have severe anemia and neonatal hemochromatosis, a rare version of the condition, is associated with a mother’s body producing antibodies that attack a fetus’ liver (which can potentially be fatal in fetuses and infants).
Regardless of the type of hemochromatosis, its life-threatening potential emphasizes how crucial early diagnosis can be (before organ damage occurs, if possible) and treatment. This is especially critical since many people at risk don't even know that they have it or carry the gene. If caught in time, hemochromatosis is a completely manageable disease. Symptoms of hemochromatosis usually don't show up until middle age (around ages 50 to 60) and can include:
- Chronic fatigue and weakness
- Joint pain
- Skin with a bronze or gray tone
- Decreased sex drive
- Weight loss
If left undiagnosed and untreated, hemochromatosis may results in some health complications, which can include:
- Scarring of the liver (cirrhosis)
- Weakened heart
- Erectile dysfunction
As far as primary hemochromatosis is concerned, it typically involves a mutation in the HFE gene (which helps regulate the amount of iron your body absorbs from your diet). One mutation in particular, referred to as C282Y, is the primary cause of this condition. If the type of hemochromatosis that your mother was diagnosed with is due to a genetic mutation, it’s likely that you already carry the gene. If you also received a copy of the same genetic mutation from your biological father, then your risk for iron overload increases. A DNA genetic test is required to find out whether you have primary hemochromatosis. Alternatively, a health care provider can measure the amount of iron circulating in your system with a blood test. If your levels are high, follow-up tests, including genetic testing with a genetic counselor, can be ordered to confirm the diagnosis.
Treatment, in the event of a positive diagnosis, is relatively straightforward. Regularly-scheduled bloodletting, called therapeutic phlebotomy, can bring blood iron down to safe levels. For those who cannot undergo therapeutic phlebotomy (i.e., those who are anemic or have heart conditions), medications may be used to remove excess iron from the body through urine or stool. Additionally, if you are diagnosed, there are a few complementary at-home dietary strategies you can adopt to reduce your risk for complications. These include avoiding iron and vitamin C supplements (vitamin C increases the absorption of iron), alcohol, and raw shellfish.
It’s great that you’re thinking ahead about hereditary conditions. In the case of genetic hemochromatosis, knowing about the condition can certainly help you make decisions about health-related issues in the future. To continue your quest for knowledge on the topic, you might also want to check out the American Hemochromatosis Society and the American Liver Foundation websites for additional information.
Originally published Feb 02, 2001
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