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Hemochromatosis - Treatments and Testing for Hemochromatosis

Hemochromatosis

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Updated June 16, 2008

Treatments for Hemochromatosis

The main treatment for hemochromatosis is therapeutic phlebotomy, in which the patient has some of their blood (about 500 ml) removed each week. Since a lot of the iron in their body in is their blood, this is a good way to get extra iron out of their body, which keeps making more blood.

Other treatments can include chelation therapy with deferoxamine and limiting high-iron foods, vitamins with iron, vitamin C (which can increase the absorption of iron), alcohol, and raw shellfish (because of the risk of infections from bacteria in the raw shellfish).

What You Need To Know

  • Hereditary hemochromatosis is an autosomal recessive genetic disorder and is most common in people with a northern European ancestry.

  • One out of every 8 to 12 people is a carrier for hemochromatosis, but since both parents have to be carriers, and then each has to pass the gene for hemochromatosis to their child, the risk of developing hemochromatosis is low for most children.

  • Kids usually only need to be considered for testing for hemochromatosis if:
    • both parents have hemochromatosis (child will have hemochromatosis too)
    • one parent has hemochromatosis and the other is a carrier for hemochromatosis (50% chance the child will have hemochromatosis)
    • both parents are carriers for hemochromatosis (25% chance the child will have hemochromatosis)

  • If one parent has hemochromatosis and then other parent has genetic testing and is shown to be negative for the hemochromatosis genes, then the child likely doesn't need to be tested, since he is just a carrier. If one parent is a carrier and the other parent is negative, then at some point the child might have testing to see whether or not he is a carrier.

  • Many experts recommend that genetic testing be reserved for adult family members of people with hemochromatosis, instead of doing genetic testing on the children in the family.

  • If a child is at risk for hemochromatosis and you decide to defer genetic testing, then you may consider having regular blood testing (every two to five years), including serum iron, TIBC, transferrin saturation, and ferritin level, to make sure he isn't developing signs of iron overload.

  • When a parent isn't available for genetic testing, you can estimate a person's risk of having the genes for hemochromatosis depending on which family member has hemochromatosis:
    • if your aunt or uncle has hemochromatosis, then your chance of having both of the genes for hemochromatosis is about 1%
    • if one of your parents has hemochromatosis, then your chance of having both of the genes for hemochromatosis is about 5%
    • if your brother or sister has hemochromatosis, then your chance of having both of the genes for hemochromatosis is about 25%

  • Other types of hemochromatosis include juvenile hemochromatosis and neonatal hemochromatosis.



Sources:

Iron homeostasis and inherited iron overload disorders: An overview. Heeney MM - Hematol Oncol Clin North Am - 01-DEC-2004; 18(6): 1379-403

Nelson R.M., Botkjin J.R., Kodish E.D., Levetown M., Truman J.T., Wilfond B.S., American Academy of Pediatrics Committee on Bioethics: ethical issues with genetic testing in pediatrics. Pediatrics (2001) 107 : pp 1451-1455.

Hoffman: Hematology: Basic Principles and Practice, 4th ed.

National Human Genome Research Institute. Learning About Hereditary Hemochromatosis.

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