(Hereditary Hemochromatosis [HH]; Primary Hemachromatosis; Familial Hemochromatosis)
Primary or Hereditary Hemochromatosis (HH)
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- Family members with hemochromatosis
- Men: onset between 30-50 years old (hemochromatosis affects men five times more frequently than women)
- Women: 50 years old or older (postmenopausal)
- Western or Northern European ancestry
- Alcoholism (which can lead to liver disease and secondary hemochromatosis)
- Joint pain (most common symptom)
- Fatigue, lack of energy
- Abdominal pain
- Loss of sex drive
- Heart problems
- Damage to the adrenal gland and resulting adrenal insufficiency
- Liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure
- Damage to the pancreas, possibly causing diabetes
- Heart abnormalities, such as irregular heart rhythms or congestive heart failure
- Early menopause
- Abnormal pigmentation of the skin, making it look gray or bronze
- Thyroid deficiency
- Damage to the adrenal gland
Blood tests—determine whether the amount of iron stored in the body is too high
- Transferrin saturation test—determines how much iron is bound to the protein that carries iron in the blood
- Serum ferritin test—shows the level of iron in the liver
Blood tests can determine if hemochromatosis is hereditary
- There are special blood tests to detect the mutation (C282Y and H63D mutations account for about 87% of HH cases)
- If the mutation is not present the doctor will look for other causes of iron build up
Tests to examine the liver:
- Liver biopsy—a tiny piece of liver tissue is removed. It is examined under a microscope. It will show how much iron has accumulated in the liver. It will also show any liver damage.
- Computed tomography (CT) scan of the abdomen—a type of x-ray. It uses a computer to make pictures of the inside of the body.
- Magnetic resonance imaging (MRI) scan of the abdomen—a test that uses magnetic waves to make pictures of the inside of the body.
- Ultrasound—a test that uses sound waves to examine the liver.
- Do not eat red meat or raw shellfish.
- Do not take vitamin C supplements.
- Do not take iron supplements.
- Avoid alcohol.
Treating Associated Medical Conditions
- Liver cirrhosis
- Heart failure
- Brothers and sisters of people who have hemochromatosis should have their blood tested. This will help identify those that have the disease or are carriers.
- Parents, children, and other close relatives of people who have the disease should consider testing.
- Doctors should consider testing people who have joint disease, severe and continuing fatigue, heart disease, elevated liver enzymes, impotence, and diabetes. These conditions may result from hemochromatosis.
American Hemochromatosis Society http://www.americanhs.org
American Society of Hematology http://www.hematology.org
Canadian Liver Foundation http://www.liver.ca
Health Canada http://www.hc-sc.gc.ca
Current Medical Diagnosis and Treatment. Lange Medical Books; 2001.
Family Practice Sourcebook. Mosby; 2000.
Ferri's Clinical Advisor. Mosby; 2000.
The Little Black Book of Primary Care. Blackwell Science; 1999.
- Reviewer: Igor Puzanov, MD
- Review Date: 03/2013 -
- Update Date: 03/15/2013 -
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
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