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, which leads to extra iron being stored in the child's liver, heart, pancreas, and other organs.
Symptoms of Hemochromatosis
Most children with hemochromatosis don't have any symptoms, as symptoms might not develop until much later in life, as the extra iron builds up in their body.
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
- ameonorrhea (absence of a period)
Diagnosis of Hemochromatosis
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 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)
It is also possible to do genetic testing to look for the defective gene (the HFE gene) that causes hereditary hemochromatosis, including C282Y and H63D mutations. Children with two copies of the mutated HFE genes will have hemochromatosis, 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" though.Lastly, a liver biopsy to measure the amount of iron in the liver may be done.
