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:

n Arthritis

n Cirrhosis of the liver

n Diabetes

n Heart failure

n Liver cancer

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

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. ¹

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%

¹www.cdc.gov/genomics/info/factshts/faqhemo.htm
Pagana, Kathleen, and Timothy Pagana. Mosby's Diagnostic and Laboratory Test Reference. St. Louis: Mosby, 1999.

 

 

 

 

 

 

 

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