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Definition

What is hemochromatosis?

  • Hemochromatosis is a disorder which makes your body to absorb too much iron from the food you eat. Excess iron is stored in your organs, especially your liver, heart and pancreas. Most people think as much as possible essential substance is good, but not. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems and diabetes.
  • The most common type of hemochromatosis runs in families. This is called hereditary or primary hemochromatosis. But people sometimes get it from having a lot of blood transfusions, certain blood problems, liver disease, or alcoholism. This is called acquired or secondary hemochromatosis.
  • The genes that cause hemochromatosis are inherited, but only a minority of people who have the genes ever develop serious problems. Signs and symptoms of hereditary hemochromatosis usually appear in midlife.

How common is hemochromatosis?

Hemochromatosis is common. Men are more likely than women to have too much iron built up. Women get rid of extra iron through blood from their menstrual cycles and during pregnancy. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of hemochromatosis?

Symptoms often don’t appear until a person is age 40 or older. This is because extra iron builds up slowly throughout the person’s life. And symptoms appear after a certain amount of extra iron builds up.

Some people with hereditary hemochromatosis never have symptoms. Early signs and symptoms often overlap with those of other common conditions. Common symptoms include:

  • Joint pain
  • Abdominal pain
  • Fatigue
  • Weakness

Later signs and symptoms of the disease may include:

  • Diabetes
  • Loss of sex drive
  • Impotence
  • Heart failure
  • Liver failure

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above orhave any questions, please consult with your doctor. 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. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes hemochromatosis?

  • A gene called HFE is the most common cause of hereditary hemochromatosis. You inherit one HFE gene from each of your parents. The HFE gene has two common mutations, C282Y and H63D. Genetic testing can reveal whether you have these mutations in your HFE gene.
  • If you inherit 2 abnormal genes, you may develop hemochromatosis. You can also pass the mutation on to your children. But, not everyone who inherits two genes develops problems linked to the iron overload of hemochromatosis.
  • If you inherit 1 abnormal gene, hemochromatosis won’t be developed. You are considered a gene mutation carrier and can pass the mutation on to your children. But, they wouldn’t develop disease unless they also inherited another abnormal gene from the other parent.

Risk factors

What increases my risk for hemochromatosis?

There are many risk factors for hemochromatosis, such as:

  • Having 2 copies of a mutated HFE gene. This is the greatest risk factor for hereditary hemochromatosis.
  • Family history. One of your parents have an abnormal gene
  • 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.
  • Your sex. Men are more likely than women to develop signs and symptoms of hemochromatosis at an earlier age

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is hemochromatosis diagnosed?

Hereditary hemochromatosis can be difficult to diagnose. Hemochromatosis may be identified because of abnormal blood tests done for other reasons or from screening of family members of people diagnosed with the disease.

Blood tests

The two key tests to detect iron overload are:

  • Serum transferrin saturation. This test measures the amount of iron bound to a protein (transferrin) that carries iron in your blood. Transferrin saturation values greater than 45 percent are considered too high.
  • Serum ferritin. This test measures the amount of iron stored in your liver. If the results of your serum transferrin saturation test are higher than normal, your doctor will check your serum ferritin.
  • People with abnormal iron tests should undergo genetic testing to confirm the diagnosis. Most people will have two gene mutations.

Additional testing

  • Liver function tests. These tests can help identify liver damage.
  • An MRI is a fast and noninvasive way to measure the degree of iron overload in your liver.
  • Testing for gene mutations.
  • Removing a sample of liver tissue for testing (liver biopsy)

How is hemochromatosis treated?

  • Phlebotomy. This is the most common treatment. It is like donating blood and is done on a regular schedule.
  • Chelation therapy (also called chelating agents). This is medicine that helps your body get rid of excess iron. It might be used in some people who can’t have phlebotomy.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage hemochromatosis?

The following lifestyles and home remedies might help you cope with hemochromatosis:

  • Avoid iron supplements and multivitamins containing iron. These can increase your iron levels even more.
  • Avoid vitamin C supplements. Vitamin C increases absorption of iron. There’s usually no need to restrict vitamin C in your diet, however.
  • Avoid alcohol. Alcohol greatly increases the risk of liver damage in people with hereditary hemochromatosis. If you have hereditary hemochromatosis and you already have liver disease, avoid alcohol completely.
  • Avoid eating raw fish and shellfish. People with hereditary hemochromatosis are susceptible to infections, particularly those caused by certain bacteria in raw fish and shellfish.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: July 6, 2017 | Last Modified: July 6, 2017

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