Definition

By Mayo Clinic Staff

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The liver

Hereditary hemochromatosis (he-moe-kroe-muh-TOE-sis) causes your body to absorb too

much iron from the food you eat. The excess iron is stored in your organs, especially your
liver, heart and pancreas. The excess iron can poison these organs, leading to life-threatening
conditions such as cancer, heart arrhythmias and cirrhosis.
Many people inherit the faulty genes that cause hemochromatosis it is the most common
genetic disease in Caucasians. But only a minority of those with the genes develop serious
problems. Hemochromatosis is more likely to be serious in men.
Signs and symptoms of hereditary hemochromatosis usually appear in midlife. Iron can be
dropped to safe levels by regularly removing blood from your body.

Symptoms
By Mayo Clinic Staff
Some people with hereditary hemochromatosis never have symptoms. Early signs and
symptoms often are nonspecific, mimicking those of other common conditions. Common
symptoms include:

Joint pain

Fatigue

Weakness

First signs and symptoms of the disease in men are often from organ damage. They include:

Joint pain

Diabetes

Loss of sex drive (libido)

Impotence

Heart failure

When signs and symptoms typically appear

Although hereditary hemochromatosis is present at birth, most people don't experience signs
and symptoms until later in life usually between the ages of 50 and 60 in men and after
age 60 in women. Women are more likely to develop symptoms after menopause, when they
no longer lose iron with menstruation and pregnancy.

When to see a doctor

See your doctor if you experience any of the signs and symptoms of hereditary
hemochromatosis. If you have an immediate family member who has hemochromatosis, ask
your doctor about genetic tests that can determine if you have inherited the gene that
increases your risk of hemochromatosis.

Causes
By Mayo Clinic Staff
Hereditary hemochromatosis is caused by a mutation in a gene that controls the amount of
iron your body absorbs from the food you eat. The mutations that cause hereditary
hemochromatosis are passed from parents to children.

Gene mutations that cause hemochromatosis

The gene that is mutated most often in people with hereditary hemochromatosis is called
HFE. You inherit one HFE gene from each of your parents. The HFE gene has two common
mutations, C282Y and H63D. One of these mutations is found in about 85 percent of people
who have hereditary hemochromatosis. Genetic testing can reveal whether you have these
mutations in your HFE gene.

If you inherit 2 abnormal genes, you may develop hemochromatosis. About 70

percent of people who inherit two genes develop evidence of iron overload of
hemochromatosis. You can also pass the mutation on to your children.

If you inherit 1 abnormal gene, you won't develop hemochromatosis. You are
considered a gene mutation carrier and can pass the mutation on to your children.
They would not develop disease unless they also inherit another abnormal gene from
another parent.

How hemochromatosis affects your organs

Iron plays an essential role in several body functions, including helping in the formation of
blood. A peptide hormone called hepcidin, secreted by the liver, plays a key role in the body's
use of iron. It controls how much iron is absorbed by the intestines, how iron is used in
various body processes and how it's stored in various organs.

In hemochromatosis, the normal role of hepcidin is disrupted and your body absorbs more
iron that it needs. This excess iron is stored in the tissues of major organs, especially your
liver. Too much iron is toxic to your body, and over a period of years, the stored iron can
severely damage many organs, leading to organ failure and chronic diseases such as cirrhosis,
diabetes and heart failure.
Though many people have faulty genes that cause hemochromatosis, only about 10 percent of
them have iron overload to the degree that causes tissue and organ damage.

Other types of hemochromatosis

Juvenile hemochromatosis. This causes the same problems in young people that
hereditary hemochromatosis causes in adults. But iron accumulation begins much
earlier, and symptoms usually appear between the ages of 15 and 30. This disorder is
caused by a mutation in the HJV gene.

Neonatal hemochromatosis. In this severe disorder, iron builds up rapidly in the liver
of the developing fetus. It is thought to be an autoimmune disease, in which the body
attacks itself.

Secondary hemochromatosis. This form of the disease is not inherited. The iron
deposits are due to another disease, such as anemia, chronic liver disease or an
infection.

Risk factors
By Mayo Clinic Staff
Factors that increase your risk of hereditary hemochromatosis include:

Having 2 copies of a mutated HFE gene. This is the greatest risk factor for
hereditary hemochromatosis.

Family history. If you have a first-degree relative a parent or sibling with

hemochromatosis, you're more likely to develop the disease. If you have a family
history of alcoholism, heart attacks, diabetes, liver disease, arthritis or impotence,
your risk of hemochromatosis is greater.

Ethnicity. People of Northern European descent are more prone to hereditary

hemochromatosis than are people of other ethnic backgrounds. Hemochromatosis is
less common in African-Americans, Hispanics and Asian-Americans.

Being a man. Men are more likely to develop signs and symptoms of
hemochromatosis at an earlier age. Because women lose iron through menstruation
and pregnancy, they tend to store less of the mineral than men do. After menopause or
a hysterectomy, the risk for women increases.

Causes

Complications
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Feb. 18, 2015

References

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See also
1. Needle biopsy
2. Genetic testing
3. Mapping the Genome
4. Inheritance patterns
5. Liver function tests
6. MRI
7. MRI
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Complications
By Mayo Clinic Staff

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Liver cirrhosis

Untreated, hereditary hemochromatosis can lead to a number of complications, especially in

your joints and in organs where excess iron tends to be stored your liver, pancreas and
heart. Complications can include:

Liver problems. Cirrhosis permanent scarring of the liver is just one of the
problems that may occur. Cirrhosis increases your risk of liver cancer and other lifethreatening complications.

Pancreas problems. Damage to the pancreas can lead to diabetes.

Heart problems. Excess iron in your heart affects the heart's ability to circulate
enough blood for your body's needs. This is called congestive heart failure.
Hemochromatosis can also cause abnormal heart rhythms (arrhythmias). Arrhythmias
can cause heart palpitations, chest pain and lightheadedness.

Reproductive problems. Excess iron can lead to erectile dysfunction (impotence),

and loss of sex drive in men and absence of the menstrual cycle in women.

Skin color changes. Deposits of iron in skin cells can make your skin appear bronze
or gray in color.