Hemochromatosis

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What is hereditary hemochromatosis?

Hereditary Hemochromatosis (HH) is a genetic disorder in which the human body accumulates excess amounts of iron. HH is inherited and is not contagious. People who suffer from HH have inherited two defective copies of a particular gene. The inheritance of the defective genes results in the body accumulating too much iron. The over accumulation of iron may result in serious adverse health affects, including:

  • Arthritis
  • Cirrhosis of the liver
  • Diabetes
  • Heart failure
  • Liver cancer

For detailed information on the genetics behind hereditary hemochromatosis, visit the Dolan DNS Learning Center’s website, “Your Genes, Your Health”.

Also visit these sites for more information:

What are the symptoms?

Early symptoms of HH are nonspecific but may include severe weakness or fatigue; unexplained joint or abdominal pain; signs of liver disease, diabetes, or heart problems; impotence; infertility; and loss of menstrual periods.

If left untreated, individuals may exhibit bronze skin pigmentation, cirrhosis of the liver, liver cancer, diabetes, heart disease, joint disease, chronic abdominal pain and severe fatigue. In addition, death may result from cardiac arrhythmia, congestive heart failure, liver failure and liver cancer.

If you suspect that you may have HH, inform your physician and ask that he or she perform the appropriate tests to screen for HH.

What blood tests identify HH?

According to Mosby’s Diagnostic and Laboratory Test Reference, there are several blood tests that can be performed to screen for the possibility of hemochromatosis. These tests include:

Serum Iron

This test is a measurement of the quantity of iron bound to transferrin. Transferrin is a protein that iron binds to in the body.

Normal Results

Males: 65-175 micrograms/dl

Females: 50-170 micrograms/dl

Child: 50-120 micrograms/dl

TIBC

Total Iron Binding Capacity (TIBC) indirectly measures the levels of transferrin in the bloodstream. TIBC is a measurement of all proteins available for binding mobile iron.

Normal Results

250-420 micrograms/dl

Transferrin Saturation

Transferrin saturation is Calculated by dividing the serum iron level by the TIBC. The result indicates the percentage of transferrin and other iron binding proteins saturated with iron.

Normal Results

Males: 20% to 50%

Females: 15% to 50%

Genetic Testing

There are several known gene mutations that cause hereditary hemochromatosis.   Depending on which mutation is present, your risk of developing iron overload will vary.  DNA testing for hemochromatosis provides for effective early diagnosis and prevention.  You can obtain genetic testing from Kimball Genetics, a Division of Labcorp by visiting their website at www.kimballgenetics.com.  You may also call 1-800-320-1807 for more information.

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References
www.cdc.gov/ncbddd/hemochromatosis/index.html
Pagana, Kathleen, and Timothy Pagana. Mosby's Diagnostic and Laboratory Test Reference. St. Louis: Mosby, 1999.

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