Accessed June 2009. The two most important tests to begin diagnosing iron overload are transferrin saturation and ferritin. Both tests are evaluating the DNA for possible changes of the HFE gene, specifically for the C282Y and H63D alleles. (2012 May). Excess iron accumulates in tissues and organs, disrupting their normal function. The lab test for ferritin serves as an important way to estimate iron levels in the body and cells. Perhaps even more common is the story of a person diagnosed with hereditary hemochromatosis, but their family members have not yet been checked. Secondary hemochromatosis is an acquired iron overload that can be due to a variety of other diseases and conditions. For example, it is estimated that only about 25% of men and about 1% of women who have two copies of the C282Y mutation will ever develop organ damage related to excess iron. National Human Genome Research Institute [On-line information]. In the unbound form, excess iron is toxic to our tissues and organs. This may affect diagnosis because a doctor will have to account for the different ways a person may experience hemochromatosis. Using MCV and a hemochromatosis frequency typical of many western Caucasian populations (0.005), positive predictive values (PV+) were 2.1-100.0% in men and 4.2-100.0% in women. Serum iron concentration in patients with hereditary hemochromatosis is greater than 150 mcg/dL. Ferritin’s job is to bind to excess iron in the blood, thereby reducing the harmful oxidation potential and toxicity of free iron. Because not all individuals who have the genetic changes need treatment, only those who have organ damage from excess iron are generally treated. Hemochromatosis Lab Tests. Hereditary hemochromatosis (HH), also called primary hemochromatosis, is one of the most common genetic disorders in the U.S., affecting about one million people, most of them Caucasians. Available online at http://www.mayoclinic.com/print/hemochromatosis/DS00455/DSECTION=all&METHOD=print. Accessed June 2009. Free iron is a “pro-oxidant” and creates free radicals that will destroy the healthy function of our cells. St. Louis: The C. V. Mosby Company; 1989. A single copy of C282Y, H63D or S65C means that the person is a. Lab Tests for Hemochromatosis. 2nd ed. There are several mutations in the HFE gene that can cause hemochromatosis. Hemochromatosis is diagnosed by a combination of blood tests looking at iron markers in the body and then confirmed by genetic analysis. Is there a test for hereditary hemochromatosis? Accessed November 2013. In either case, lab testing can be an essential first step in identifying the root cause of too much iron. Hemochromatosis is a disorder where too much iron builds up in your body. It prevents additional organ damage but does not reverse existing damage. Even though iron overload is a relatively common genetic disorder, many people go years or decades before they find out they have it. Hemochromatosis is an iron metabolism disorder that may be inherited or acquired. Everyone has two copies of the HFE gene – one inherited from their mother and one inherited from their father. This finding is commonly related to sideroblastic anemia, excessive iron consumption, or chronic alcohol ingestion. Hemochromatosis. You should not stop taking any medication without first consulting your physician. It is uncommon among … Mild persistent increases of serum transaminases have been evaluated in several studies. Allen KJ et al. Hemochromatosis. Transient increases in iron first appear in Kupffer cells. Hemochromatosis is also called iron overload disease. End-organ damage or clinical manifestations of hereditary hemochromatosis occur in approximately 10 percent of persons homozyg… Iron within our cells is the most damaging to our long term health, thus ferritin is of extreme importance to understand. A one-time test of slightly elevated serum iron is not enough to diagnose hemochromatosis, as other reasons might cause serum iron levels to rise, such as inflammation or infection. Resu… Location of the liver. Bacon B, et al. Ferritin Level, sometimes called the “storage form of iron,” is the most significant lab test to monitor the state of your condition and the progress of your treatment. Because the human body does not have the ability to excrete excess iron, a progressive build-up of iron occurs in the tissues and organs. Check your joints for pain. Get your iron levels checked via DirectLabs. Some estimates show 1 in 9 people of Northern European descent is a carrier of the genetic mutation that can cause this disease. We use cookies to ensure that we give you the best possible experience on our website. Second, it’s critical in the monitoring and follow-up necessary to see how well iron levels are controlled. These abnormalities have a wide variety of causes including fatty liver, viral, and alcoholic hepatitis plus the less likely inherited metabolic liver diseases and muscle leakage of aspartate and alanine aminotransferases after excessive exercise. Diet, Nutrition & Recipes. National Heart, Lung, and Blood Institute [On-line information]. This is why elevated transferrin saturation is positively correlated with hemochromatosis and is often the first clue that someone might have iron overload. The main goal of treatment is to avoid iron overload in … common genetic (inherited) disorder in which too much iron is absorbed from the digestive tract Accessed September 12, 2013. Critical Values; Color coded tube guide; Notifiable Conditions ; Staff Links. 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