Hemochromatosis can be confirmed in several ways: blood chemistries, genetic testing, liver biopsy, or quantitative phlebotomy.
Blood chemistries (lab tests) that can detect excess levels of body iron include: serum ferritin, fasting serum iron and total iron binding capacity (TIBC). Serum iron divided by TIBC X 100% provides the transferrin-iron saturation percentage (TS%). In classic HHC both TS% and serum ferritin are above normal. TS% values greater than 45% warn of potential iron overload and should be investigated. A test that is less commonly used, but is also helpful, is UIBC (unsaturated iron binding capacity).
If a person with hemochromatosis is diagnosed with serum ferritin less than 1,000ng/mL, the chances of finding undetected cirrhosis, the most common life-threatening disease caused by iron overload, are minimal, as low as 1%. If however serum ferritin is allowed to rise above 1,000ng/mL, the risk of cirrhosis or liver cancer increase 20-200 fold.
Ideally, and for the greatest testing accuracy, serum iron should be tested when fasting; patients should take nothing by mouth past midnight or prior to blood work and should avoid vitamin C supplements three days prior to tests and reduce consumption of Vitamin C rich juices during this same period. In general, the best time for blood work is in the morning. Hemoglobin or hematocrit are performed to assure levels are sufficient enough to perform blood removal with therapeutic phlebotomy (TP), which is the same as a blood donation except, a doctor’s order is required.
Genetic tests or DNA analysis or molecular analysis can confirm the presence of mutations C282Y, H63D or S65C. The genetic test does not provide any information about body iron levels but genetic testing can provide a diagnosis and expose a potential risk for symptoms and disease.
Genetic testing can be done by two methods: cheek brush or whole blood sample.
Cheek brush collection involves scraping cells from inside the mouth using a mascara-like wand with tiny bristles on the end or a cotton swab. Whole blood collection requires a needle to be inserted into the arm (same place where blood is removed during donation or phlebotomy) and a vial of blood removed. According to John Longshore, Ph D., Iron Disorders Institute Advisory Board member and expert in laboratory diagnostics, both methods are reliable. One should take care to protect the sample, which might include using an overnight mailing service, as extreme cold or heat may destroy tissue sample.
Genetic testing is available through most health care providers or a test kit can be ordered online. Before getting genetically tested it is important to be fully informed of the potential for employment or insurance discrimination, including the likelihood of policy denial or cancellation. Genetic testing, when used correctly, can be helpful and can help prevent unnecessary suffering or death. Parents who are planning a family to determine if they are carriers and have the potential to pass mutated copies of hemochromatosis genes to their children.
Recommended Reading, Forms and Educational materials:
• Hemochromatosis Newbie’s Starter Kit
• Personal Health Profile
• Phlebotomy Described
• Iron Content in Foods
• Reading Room
Guide To Hemochromatosis is a comprehensive look at the very common disorder, Hemochromatosis. As many as 4 Million Americans have Hemochromatosis and it is genetic. Purchase Guide To Hemochromatosis for you and for your family.
Hemochromatosis Cookbook contains a basic introduction, great for beginners and recipes, eating plan, checklists, forms and charts.