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Hereditary hemochromatosis is one of the most common inherited conditions in the U.S. It can cause iron overload, which happens when too much iron builds up in the body, and can lead to various health problems. But hemochromatosis is usually treatable and not always serious.

More about hereditary hemochromatosis

People with hereditary hemochromatosis absorb too much iron into their bodies. Typically, the body is able to control how much iron is absorbed from food and where it is stored. But in people with hereditary hemochromatosis, the body has less control over that process, so the body may absorb more iron than needed.

Because the human body can increase the amount of iron it absorbs—but not the amount of iron it gets rid of—the extra iron can build up in various organs like the heart, liver, joints, and pancreas. This can eventually lead to diseases like heart disease, liver cancer and cirrhosis, joint disease, and diabetes. It is most common in people of northern European descent, though it can be found in other populations as well.

People who are carriers of hereditary hemochromatosis have a DNA difference linked to hemochromatosis, but they don’t have the condition. Their children, however, might—if the other biological parent is also a carrier or has the condition.

What are the symptoms of hereditary hemochromatosis?

Most people with hemochromatosis don’t have any symptoms, particularly in the early stages, when the iron buildup is less. When symptoms do appear, they often overlap with those of other common conditions such as arthritis, diabetes, depression, liver disease, and heart failure.

Early signs and symptoms can include:

  • Frequent tiredness
  • Joint stiffness and pain
  • Stomach pain
  • Weakness
  • Weight loss
  • Loss of sex drive

Later signs and symptoms of hemochromatosis may include:

  • Liver disease
  • Diabetes
  • Abnormal skin coloring (gray or bronze)
  • Heart failure

People with hereditary hemochromatosis are born with the condition. But often their symptoms don’t appear until decades later—usually well into adulthood.

Why is it important to learn about hereditary hemochromatosis?

Left untreated, elevated iron levels can lead to various health problems and permanent organ damage—though the severity of health problems can vary from person to person. It is relatively straightforward to treat: People with hemochromatosis are typically treated with regular blood draws.

People with hemochromatosis also typically:

  • limit how much vitamin C they consume because vitamin C increases how much iron you get out of food.
  • limit how much alcohol they drink because alcohol can damage the liver, which in their case may already be weakened by too much iron.
  • avoid iron supplements.

Hereditary hemochromatosis is also important to learn about for carriers. Their children have a higher chance of having the condition—if their child’s other biological parent is also a carrier of hereditary hemochromatosis or has the condition.

How is hereditary hemochromatosis passed down?

People who are carriers of hereditary hemochromatosis likely had it passed down to them by one of their parents. This means at least one of their parents is likely a carrier. And each of their siblings has a 1 in 2 chance of being a carrier as well.

Each of the biological children of a carrier of hereditary hemochromatosis has a higher chance of having hereditary hemochromatosis if the other biological parent is also a carrier or has the condition. They also have a higher chance of being a carrier of hereditary hemochromatosis.

If someone is a carrier and the other biological parent is not, then each child has a 1 in 2 chance of being a carrier.

If both biological parents are carriers of hereditary hemochromatosis, then each child has a:

  • 2 in 4 chance of being a carrier
  • 1 in 4 chance of having the condition

Here is how the inheritance works in most cases: A person has two copies of most of their genes, one from each parent. To have hereditary hemochromatosis they would need to have DNA differences linked to hereditary hemochromatosis in both copies of a gene (such as HFE) linked to the condition. This type of inheritance is known as autosomal recessive inheritance.

What does the test offered through Ancestry® look at?

The test offered through Ancestry looks at specific DNA differences in a gene that can cause the most common form of hereditary hemochromatosis: the HFE gene.

What does this gene do? The HFE gene provides your body with instructions for producing a protein known as the HFE protein. The HFE protein interacts with other proteins to help detect and regulate how much iron is in your body. DNA differences in the HFE gene can cause this system to not work as it should, leading to an overload of iron.

 

AncestryHealth® includes laboratory tests developed and performed by an independent CLIA-certified laboratory partner, and with oversight from an independent clinician network of board-certified physicians and genetic counselors. The test results are not diagnostic and do not determine your overall chance of developing a disease or health condition. The tests are not cleared or approved by the U.S. Food and Drug Administration. You should consult a healthcare provider before taking any action based on AncestryHealth® reports, including before making any treatment, dietary, or lifestyle changes. AncestryHealth® is not currently available in New York, New Jersey or Rhode Island.

 

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