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Hemochromatosis

Necessity of hemochromatosis genetic testing

05/27/2008

Question:

Approximately one year ago it was found in a routine blood test that I had a total iron count of 180. My doctor at this time told me to quit taking my multivitamin with iron. Recently, I had another routine blood test by a different physician and told him about the past high total iron count. In this test, my iron count was 126 with my physician saying normal was between 25-75 (Feritin level I believe?). He said I could have Hemochromatosis and recommended a genetic test and then possibly a liver biopsy depending on the results. Does this testing seem premature as my level did not appear extremenly high? Additionally, I had been taking a vitamin C supplement with 2000% DV. After researching, I realized this could have been the cause of the high level. Would it be wise to do other blood testing of iron levels before a genetic test most likely not covered by insurance? I am a 29 year old female with no apparent symptoms. Thank you for your input.

Answer:

It would be helpful to know your entire iron panel results; that is the:

and the normal values for each as well.

Typically, genetic testing for hereditary hemochromatosis includes testing for the 2 most common mutations in the HFE gene. These are named C282Y and H63D. Most laboratories that offer this testing charge a couple hundred dollars, and it may or may not be covered by your insurance company. If you have two mutations, then it is known that you are predisposed to the development of "iron overload" or hemochromatosis. So, this testing would be helpful in your case to help confirm whether or not your high iron level is actually due to hereditary hemochromatosis or not.

Most women with hemochromatosis don't display symptoms until after menopause, since they are "self-phlebotomizing" through their normal monthly menstrual cycle. You also mentioned that you had been taking a vitamin C supplement. It may be wise to discontinue the use of this supplement, have your iron panel redrawn, and see if your iron level still remains high. This could also provide some helpful insight into whether or not proceeding with genetic testing is necessary at this time.

For more information:

Go to the Hemochromatosis health topic, where you can:

Response by:

Amy Curry Sturm, MS, LGC Amy Curry Sturm, MS, LGC
Associate Professor of Human Genetics
College of Medicine
The Ohio State University