Overview of Hereditary Hemochromatosis

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Kids need iron in their diet, which is why most parents try to make sure that their children eat plenty of iron-rich foods each day. Without iron, they become at risk for iron deficiency anemia.

What happens if you get too much iron, though?

Fortunately, that isn't a problem for most kids, as their body regulates how much iron they absorb and store. But if they have hemochromatosis, a genetic disease that can be inherited from a child's parents, a child can absorb too much iron, leading to extra iron being stored in the child's liver, heart, pancreas, and other organs.


Signs, symptoms, and problems associated with hemochromatosis can eventually include:

  • joint pain (arthralgia) and arthritis
  • fatigue
  • decreased energy
  • weight loss
  • abdominal pain
  • hair loss
  • heart problems, including cardiomyopathy with heart failure and arrhythmias
  • liver disease, with an enlarged liver (hepatomegaly), cirrhosis, and liver failure
  • gray or bronze skin discoloration
  • hypothyroidism
  • diabetes
  • impotence
  • amenorrhea (absence of a period)

Most children with hemochromatosis don't have any symptoms, though, as symptoms might not develop until much later in life, as the extra iron builds up in their body.


Since children with hemochromatosis often don't have any symptoms yet, they can be difficult to diagnosis. A common scenario is that an older close relative is diagnosed with hemochromatosis and then because it is a genetic disease, other family members undergo testing. So a child might be tested by his pediatrician even before he has any symptoms, just because of his family history.

Testing for hemochromatosis can include blood tests to measure the amount of iron in a child's body, including looking for an:

  • elevated transferrin saturation
  • elevated ferritin
  • elevated serum iron
  • decreased total iron binding capacity (TIBC)

This is called an iron panel at most labs.

Genetic Testing

It is also possible to do genetic testing to look for the defective gene (the HFE gene) that causes hereditary hemochromatosis, including C282Y, H63D, and S65C mutations. Children with two copies of the mutated HFE genes will have hemochromatosis (they are most at risk for symptoms if they have two copies of the same mutated gene), while if they just have one of the mutated genes, then they will be a carrier and won't develop any of the symptoms of hemochromatosis.

The role of genetic testing of children is a little controversial though. Keep in mind that the American Academy of Pediatrics states that "a reduction in morbidity or mortality as a result of genetic testing has not been demonstrated for many conditions for which predispositional testing is available," and that "the knowledge of increased risk status may trigger adverse psychological responses and, potentially, discrimination by insurers, employers, or others."

In general, for many conditions, including hemochromatosis, they recommend putting off genetic testing until the child is an adult or able to make a competent, informed decision.

Another good reason to put off genetic testing is that only about 50% of people who test positive for hemochromatosis actually go on to have symptoms.

On the other hand, experts at the National Human Genome Research Institute state that "since early diagnosis means early treatment and effective disease management, there may be benefits in identifying children at risk." They also maintain that "genetic testing is considered useful for couples planning to have a family."

In general, kids usually only need to be considered for testing for hemochromatosis if:

  • both parents have hemochromatosis (child will have hemochromatosis too)
  • one parent has hemochromatosis and the other is a carrier for hemochromatosis (50% chance the child will have hemochromatosis)
  • both parents are carriers for hemochromatosis (25% chance the child will have hemochromatosis)

When a parent isn't available for genetic testing, you can estimate a person's risk of having the genes for hemochromatosis depending on which family member has hemochromatosis:

  • if your aunt or uncle has hemochromatosis, then your chance of having both of the genes for hemochromatosis is about 1%
  • if one of your parents has hemochromatosis, then your chance of having both of the genes for hemochromatosis is about 5%
  • if your brother or sister has hemochromatosis, then your chance of having both of the genes for hemochromatosis is about 25%

And keep in mind that many experts recommend that genetic testing be reserved for adult family members of people with hemochromatosis, instead of doing genetic testing on the children in the family.

Also, if one parent has hemochromatosis and then other parent has genetic testing and is shown to be negative for the hemochromatosis genes, then the child likely doesn't need to be tested, since he is just a carrier. If one parent is a carrier and the other parent is negative, then at some point the child might have testing to see whether or not he is a carrier.


The main treatment for hemochromatosis is therapeutic phlebotomy, in which the patient has some of their blood (about 500 ml) removed each week. Since a lot of the iron in their body in is their blood, this is a good way to get extra iron out of their body, which keeps making more blood.

Other treatments can include chelation therapy with deferoxamine and limiting high-iron foods, vitamins with iron, vitamin C (which can increase the absorption of iron), alcohol, and raw shellfish (because of the risk of infections from bacteria in the raw shellfish).

What Else to Know

Other things to know about hereditary hemochromatosis include that:

  • Hereditary hemochromatosis is an autosomal recessive genetic disorder and is most common in people with a northern European ancestry.
  • One out of every 8 to 12 people is a carrier for hemochromatosis, but since both parents have to be carriers, and then each has to pass the gene for hemochromatosis to their child, the risk of developing hemochromatosis is low for most children.
  • If a child is at risk for hemochromatosis and you decide to defer genetic testing, then you may consider having regular blood testing (every two to five years), including serum iron, TIBC, transferrin saturation, and ferritin level, to make sure he isn't developing signs of iron overload.
  • Other types of hemochromatosis include juvenile hemochromatosis and neonatal hemochromatosis.
  • A liver biopsy to measure the amount of iron in the liver may need to be done if a child has or is suspected to have hemochromatosis.

A hematologist and/or gastroenterologist can be helpful if you think your child is at risk for hemochromatosis.

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Article Sources

  • Heeney MM. Iron homeostasis and inherited iron overload disorders: An overview. Hematol Oncol Clin North Am 01-DEC-2004; 18(6): 1379-403
  • Hoffman: Hematology: Basic Principles and Practice, 4th ed.
  • National Human Genome Research Institute. Learning About Hereditary Hemochromatosis. Accessed May 2016.
  • Nelson et al, American Academy of Pediatrics Committee on Bioethics: ethical issues with genetic testing in pediatrics. Pediatrics (2001) 107 : pp 1451-1455.