Objections and Dangers of Genetics Testing for Hemochromatosis

There are 40 known mutations of the HFE gene that can cause an overload of iron. The labs check for only the two most often expressed mutations: c282y and h63d. There are still some mutations that are yet to be discovered. Clearly this test is not ready to be used as a screening device at this time. Jerome Sullivan MD PhD says that the genetic test can "confirm but not rule out hemochromatosis."

Professional genetics organizations have said that person under the age of 18 should not be checked with genetic tests. But we know that children and even neonates can have too much iron even to the point of death.

Genetic testing is expensive, $150-$500 per person. All blood relatives must be checked. Think of the cost of screening an entire family. And the screening is incomplete, iron levels must still be checked.

There are two different naming conventions for each of these mutations. This adds to the possibility of confusion. Also there are issues of homozygosity (full blown expression) and heterozygosity (partial expression, sometimes called the carrier rate). It is possible to be a compound heterozygote which means that you have one copy of each of the tested mutations. We have literature in hand showing that people with only partial genetics can also get sick. The labs want to report the findings directly to your doctor. But your doctor is usually poorly trained to deal with genetics. It's a highly specialized part of medicine. This information needs to be explained to the patient through a trained genetics counselor. Doctors like certainty. If there is any confusion, the doctor might back away from the diagnosis while he casts about for another explanation for the symptoms. Iron overload is fatal if not detected and or not treated.

The insurance companies have demonstrated a willingness to discriminate against people who have hemochromatosis. They usually refuse coverage altogether or if they do cover hemochromatosis patients it is with exorbitant premiums. If you are found with a genetic basis for excess iron you may be discriminated against even before you have an overload of iron. The U.S. Congress is trying to deal with the issue of genetic discrimination at this time. But whether they are able to come up with preventative measures that are enforceable is problematic. Remember the insurance industry has a strong lobby in place.

Sometime in the future the science will be firmed in this area and a one time test of your genes will make sense. Presently Iron Overload Diseases Assn. recommends a simple blood test called transferrin saturation (TS) or in some labs may be called percentage of saturation. Any score above 44% will need immediate protocol intervention. UIBC is an alternate test for screening. Safe levels are above 146. Testing for too much iron is not a one time check but a lifetime survey. Everybody in the bloodline will need this test at each and every physical no matter the age and no matter the gender. All that is needed for good health where excess iron is concerned is vigilance and treatment where necessary.

If you have had genetic or DNA testing and been found clear of iron overload, we urge you to get in touch with our organization.