Hereditary hemochromatosis (hee-muh-kro-muh-TOE-sus) is a genetic disease that causes the body to absorb and store too much iron.
Iron is an important nutrient that our bodies get from food. It's in every red blood cell and is the main component of hemoglobin, the substance in red blood cells that carries oxygen away from the lungs to the rest of the body.
In hemochromatosis, the body absorbs about twice as much iron as it should. This excess iron can't leave the body. Instead, it's stored in the joints and major organs such as the liver, heart, brain, pancreas, and lungs. Over time, this iron can build to toxic levels that can cause diabetes and damage or even destroy an organ.
Even though kids are born with hemochromatosis, the very slow buildup of iron means that it might not be diagnosed until adulthood, when symptoms begin.
Therapies and diet changes can help slow the progression of the disease. That's why it's especially important for kids with a family history of hemochromatosis to be tested early on.
Hereditary hemochromatosis is caused by a mutation in a gene that controls how much iron the body absorbs from food. It's actually fairly common, affecting about 1 in 200 people. The disease is considered "autosomal recessive," which means that someone must have two copies of the mutated gene — one from each parent — to get it.
In the United States, 1 out of every 8 to 10 people has one copy of the mutated gene. These people are carriers — they can pass the gene on to their children but won't get the disease. Many people who inherit two mutated genes will absorb extra iron, but only some will absorb enough to cause health problems.
Carriers and other people who don't have hereditary hemochromatosis can still have iron build up if they have another genetic defect or a health problem that affects iron absorption, such as alcohol abuse or hepatitis, an inflammation of the liver.
Some people with hemochromatosis never develop symptoms. Kids who are diagnosed with it rarely have symptoms because iron takes years to build up.
An adult with the disease eventually may have:
Fortunately, not all adults with too much iron in the system develop these conditions.
Sometimes, people with hemochromatosis are diagnosed with conditions that can have similar symptoms, like chronic hepatitis, some forms of diabetes, Alzheimer's disease, iron deficiency, or menstrual problems.
If hemochromatosis is diagnosed and treated early enough, damage from iron buildup can be prevented. Doctors usually diagnose iron overload with these blood tests:
Genetic testing for the gene mutation that causes the disease will find most, but not all, cases of hemochromatosis. Sometimes doctors need to do a biopsy, taking a small sample of liver tissue to look for iron deposits or changes in the cells.
If you have a family history of hereditary hemochromatosis, tell your child's doctor. The doctor may recommend checking iron levels or doing genetic testing, especially if a close relative (like a spouse, parent, child, or sibling) has the disease.
Doctors treat the iron overload from hereditary hemochromatosis by regularly drawing blood to lower the level of iron. This process, called phlebotomy (flih-BOT-uh-mee), is similar to making blood donations.
During the initial "de-ironing" phase, blood is removed once or twice a week until a person's iron levels drop to normal. This phase may take 2 to 3 years. After that, a person may need phlebotomy done three or four times a year to make sure iron levels stay down. Iron levels then have to be checked about once a year, and treatment continues for life. The goal is to prevent any organ damage from iron overload.
Treatment for kids usually isn't as aggressive as for adults. Minor changes in diet often can help slow iron buildup.
Your child's doctor will recommend ways to delay or lower iron overload. These might include:
|Iron Disorders Institute Iron Disorders Institute's mission is to reduce pain, suffering, and death because of disorders such as hereditary hemochromatosis, acquired iron overload, porphyria cutanea tarda, sideroblastic anemia, thalassemia, African siderosis, iron deficiency anemia, and anemia of chronic disease.|
|Centers for Disease Control and Prevention (CDC) The CDC (the national public health institute of the United States) promotes health and quality of life by preventing and controlling disease, injury, and disability.|
|National Society of Genetic Counselors This organization represents the genetic counseling profession through research, advocacy, and education.|
|American Liver Foundation This nonprofit organization promotes liver health and disease prevention.|
|Hepatitis Hepatitis is most commonly caused by one of three viruses. In its early stages, hepatitis may cause flu-like symptoms.|
|Iron and Your Child Iron is an essential nutrient that is needed to make hemoglobin, the oxygen-carrying component of red blood cells.|
|Hepatitis Hepatitis, an infectious liver disease, is more contagious than HIV, and just like HIV, there is no cure. Find out how to protect yourself.|
|Hepatitis B (HBV) Hepatitis B can move from one person to another through blood and other bodily fluids. For this reason, people usually get it through unprotected sex or by sharing needles.|
|Blood Test: Ferritin (Iron) Doctors may order a ferritin test when they suspect kids have too little or too much iron in their bodies.|
|A to Z: Alcohol Abuse Learn about alcohol abuse and consequences of excessive drinking.|
|Hepatitis It's sneaky, it's silent, and it can permanently harm your liver. Read this article for more information on hepatitis.|
|Your Child's Immunizations: Hepatitis A Vaccine (HAV) Find out when and why your child needs to get this vaccine.|
|Your Child's Immunizations: Hepatitis B Vaccine (HBV) Find out when and why your child needs this vaccine.|
|Genetic Counseling Genetic counselors work with people who are either planning to have a baby or are pregnant to determine whether they carry the genes for certain inherited disorders. Find out more.|
|Genetic Testing Advances in genetic testing have improved doctors' ability to diagnose and treat certain illnesses.|
|Blood Without blood, our organs couldn't get the oxygen and nutrients they need, we couldn't keep warm or cool off, we couldn't fight infections, and we couldn't get rid of our own waste products. Find out about the mysterious, life-sustaining fluid called blood.|
|Blood Blood is vital to bodily function. Read this article for the basics about blood, blood cells, blood diseases, and more.|
What to expect when coming to Akron Children's
For healthcare providers and nurses
Residency & Fellowships, Medical Students, Nursing and Allied Health
For prospective employees and career-seekers
Our online community that provides inspirational stories and helpful information.