Hereditary hemochromatosis

What is hereditary hemochromatosis?

• Hemochromatosis is when the body absorbs inappropriately high levels of iron.
• This extra storage of iron can be seen in the liver, skin, pancreas, heart, joints and testes.
• Symptoms related to this condition usually do not occur until adulthood, and 75-90% of patients never show symptoms.

 How does hereditary hemochromatosis occur?

• Hereditary hemochromatosis is inherited in an autosomal recessive manner, meaning both parents have to carry a gene mutation in order for the child to have the condition.
• There are two common mutations that cause hereditary hemochromatosis.
• This condition is most common in people of Northern European decent.

What are the signs and symptoms?

Early symptoms of hereditary hemochromatosis include:

• Abdominal pain
• Weakness
• Excessive tiredness
• Weight loss

Other symptoms may include:

• Increased skin pigmentation
• Diabetes mellitus
• Congestive heart failure
• Arrhythmias
• Arthritis
• Hypogonadism

How is it treated?

Your child’s ferritin (iron) levels will be checked. If your child’s iron levels are above normal limits, you will get a treatment plan.

What are the screening recommendations for hereditary hemochromatosis?

Once ferritin levels are normal, it is recommended that children have a blood test to measure serum ferritin levels every 3 to 4 months.

If a child gets cirrhosis (liver scarring due to liver disease) screening for HCC (hepatocellular cancer) is also recommended.

Things to avoid:

• Medical iron
• Mineral supplements
• Excess vitamin C
• Uncooked seafood
• Alcohol (if any liver damage has occurred due to hemochromatosis)

Resources

Children’s Hospital Specialty Center
Genetics and Genomics Program
2530 Chicago Avenue South
Minneapolis, MN 55404
612-813-7240

Questions?

This sheet is not specific to your child but provides general information.  If you have any questions, please ask the doctors or nurses. For more reading material about this and other health topics, please call or visit the Family Resource Center library.

Last Reviewed 4/2016

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