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.
Signs and Symptoms
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:
muscle aches and joint pain, mostly in the fingers, knees, hips, and ankles
impotence and hypogonadism (low production of sex hormones by the testicles or
Fortunately, not all adults with too much iron in the system develop these
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
If hemochromatosis is diagnosed and treated early enough, damage from iron buildup
can be prevented. Doctors usually diagnose iron overload with these blood tests:
measures the amount of ferritin, a protein that contains iron
serum iron: measures iron concentrations in the blood
total iron-binding capacity (TIBC): measures the amount of iron that the blood
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
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.
Caring for Your Child
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
Drinking tea and milk products. Black, green, and oolong teas
have tannins, which help reduce iron absorption. (Herbal teas won't help because they
don't contain tannins.) Milk also reduces iron absorption.
Getting vaccinated. Your child should be immunized against hepatitis A and B.
Limiting red meat. Iron-rich vegetables are fine because the
body doesn't absorb iron from plant sources very well.
Limiting iron-enriched foods. Avoid breakfast cereals, breads,
and snacks that are enriched with iron.
Limiting vitamin C. Try to keep any vitamin C supplements under
100 milligrams a day because vitamin C makes the body absorb more iron.
Using iron-free vitamins. Check the label to find a children's
multivitamin that doesn't have iron.
Not cooking with uncoated cast iron cookware. It may be
possible for iron from the pan to get into the food you cook, although doctor's aren't
entirely sure about this.
Skipping raw seafood. Sometimes raw shellfish can carry bacteria
that might harm someone who has an iron overload.
Not drinking alcohol. Alcohol is bad for hemochromatosis because
it harms the liver — which is already damaged — and also makes the body
absorb more iron.