Hereditary Hemochromatosis

What is hereditary hemochromatosis?

Hereditary hemochromatosis is a
blood disorder that causes your body to absorb too much iron from the food you eat. Iron
is a mineral found in many foods. But too much iron is toxic to your body. The excess
iron is stored in your body’s tissues and organs. Over time, the iron builds up in your
body (iron overload). It may damage your tissues and organs. Too much iron in your
heart, liver, pancreas, and pituitary can cause severe problems.

There are other types of hemochromatosis. They include:

  • Juvenile hemochromatosis. This is a
    rare inherited condition that affects teens and young adults ages 15 to 30. It leads
    to a severe iron overload. This can cause heart and liver disease.
  • Neonatal hemochromatosis. This is an
    inherited form in which , iron builds up very quickly in a baby’s liver before birth.
    This can cause severe organ damage.
  • Transfusion-related
    hemochromatosis.
     This type is not inherited but occurs in people with certain
    blood disorders who need many blood transfusions. Over time, these transfusions can
    cause iron overload.

What causes hereditary hemochromatosis?

Hereditary hemochromatosis is a
genetic disease. This means it is passed down from parents through their genes. It is
most common in whites whose families are from Northern Europe. Men and women are equally
affected by the disease. Hereditary hemochromatosis is one of the most common genetic
disorders in the U.S.

You may be born with this condition if you inherit two hemochromatosis genes, one from each parent. If you have only one of these genes, you are called a carrier of the gene. You don’t have symptoms. But you have a greater chance of having a child with this disease.

If parents without
hemochromatosis have a child with the disorder, there is a 25% chance that any
additional child may be born with the disease. Parents, children, and siblings
(first-degree relatives) of people with hemochromatosis should be screened for the
disorder.   

It’s more common for men with this condition to have too much iron. Men also tend to show symptoms at a younger age than women. This is likely because women lose iron each month when they have their period.

What are the symptoms of hemochromatosis?

Each person’s symptoms may vary. Symptoms may include:

  • Lack of energy (lethargy) and weakness
  • Irritability
  • Depression
  • Joint pain
  • Bronze or yellowish skin color
  • Loss of body hair
  • Impotence in men
  • In women, not having a period
  • Infection

Untreated or severe hemochromatosis may lead to the following:

  • Liver function problems and an enlarged liver
  • Abnormal heart rhythm
  • Heart failure
  • Enlarged spleen
  • Diabetes

Symptoms may look like other health problems. Always see your healthcare provider for a diagnosis.

How is hemochromatosis diagnosed?

This disease is usually found
through a routine blood test. Your provider will take your medical history and give you
a physical exam. You may also have one or more of these tests:

  • Iron levels. People with
    hemochromatosis have higher levels of iron in their blood.
  • Transferrin saturation (TS) test.
    This blood test measures the percentage of transferrin and other proteins that have
    too much iron. It’s helpful in finding the disease early.
  • Ferritin levels. Ferritin is a
    protein in the blood. It increases when iron levels in the body increase. It rises
    most significantly when iron levels are very high.
  • Liver biopsy. A small sample of liver
    tissue or cells is removed and checked under a microscope.
  • Genetic testing. This blood test
    looks for the gene changes that cause hereditary hemochromatosis.