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Hemochromatosis: How to Get Tested
Once the genetic defect is common and early detection and treatment are so effective, some researchers and education and advocacy groups have suggested that widespread screening for hemochromatosis would be cost-effective and should be conducted. However, a simple, inexpensive, and accurate test for routine screening does not yet exist, and the available options have limitations. For example, the genetic test provides a definitive diagnosis, but it is expensive. The blood test for transferrin saturation
is widely available and relatively inexpensive, but it may have to be done twice with careful handling to confirm a diagnosis and to show that it is the consequence of iron overload.

Where can I get tested for hereditary hemochromatosis?

Here is an easy way to get direct testing without a prescription and results sent directly to the patient only. Call Healthcheck USA www.healthcheckusa.com toll free at 1-800-929-2044 for a testing lab near you. Blood testing for a complete iron profile, which includes, serum iron, TIBC and serum ferritin and "do it yourself" genetic test kits that you use at home are available (no blood, no needles, no pain).

If you have a doctor, you may have this testing done by him/her. Be sure to ask your doctor for these tests by name and obtain and review copies of your test results.

Genetic Labs Performing DNA Testing for Hereditary Hemochromatosis

This is the latest technology in medicine which will quickly and accurately determine if you have the HFE (HH) mutation for hereditary hemochromatosis (HH). This test can help confirm the diagnosis of hereditary hemochromatosis in the presence of elevated transferrin saturation percentage and elevated serum ferritin. In some cases, this test can help the doctor to avoid the traditional (and invasive) liver biopsy for the patient when the ferritin is only slightly elevated (early diagnosis) and no other signs of liver distress are evident such as elevated liver enzymes. Another significant use of the DNA test is screening other family members for their genetic risk once one family member has been identified with the mutation. This is particularly useful in children to identify them at an early age so that the pediatrician can monitor the child throughout childhood for iron storage. AHS advocates newborn screening with the genetic test to have the earliest possible awareness of this mutation being present so that the life of the child may be protected through close monitoring by the pediatrician. AHS believes that everyone should have the genetic (DNA) test, whether or not they have a family history of HH or symptoms of HH. Only testing can show you for sure if you, or your family, is at risk for HH and if the HH gene mutation, known as the HFE mutation, is present in your family's gene pool.

Warning: The doctors on the Board of Directors of The American Hemochromatosis Society state that transferrin saturation percentage greater than 40% and serum