Hemochromatosis is a disorder in which extra iron builds up in the body to harmful levels. Some doctors prefer to do these tests separately from one another, and some doctors like to do these tests together, so your experience will likely depend on your physician’s preferences for blood testing. Hemochromatosis. Accessed September 2013. Hemochromatosis is a blood disorder that causes the body to accumulate more iron than it needs. Once a TS% is greater than 50% in men and greater than 45% in women (on 2 occasions), this finding is suggestive of genetic hemochromatosis. Genetic testing — can be used to help confirm a diagnosis of HH. L'hémochromatose est essentiellement une anomalie héréditaire (génétique), caractérisée par une absorption et un stockage excessifs de fer dans l'organisme. (February 1, 2011) National Heart, Lung, and Blood Institute. This is an iron metabolism disorder that may be acquired or inherited. While low TIBC is commonly explained by the presence of hemochromatosis, it can also be caused by hypoproteinemia from malnutrition, anemia with infection and chronic disease, and nephrosis. Second, it’s critical in the monitoring and follow-up necessary to see how well iron levels are controlled. This value represents the percentage of how much iron is bound to the blood protein transferrin. Accessed September 2013. Persons who are homozygous for the HFE gene mutation C282Y comprise 85 to 90 percent of phenotypically affected persons. It can result from external factors, such as diet, or genetic factors. Sign-up today for in-depth and empowering articles with actionable tips to assist you on your journey with hemochromatosis! Primary or Hereditary Hemochromatosis (HH). National Digestive Disease Information Clearinghouse [On-line information]. In the past, liver biopsy was widely used to diagnose hemochromatosis. (Updated 2009 April 10). Prev Previous Hemochromatosis: Pregnancy and Fertility. Free iron is a “pro-oxidant” and creates free radicals that will destroy the healthy function of our cells. Transferrin attempts to keep up with this excess by rapidly binding and transporting iron to the cells. End-organ damage or clinical manifestations of hereditary hemochromatosis occur in approximately 10 percent of persons homozyg… Hemochromatosis is also called iron overload disease. Sfeir, H. and Klachko, D. (Updated 2008 July 17). The most common signs at the time of presentation are hepatomegaly (13%), skin pigmentation, and arthritis. The information provided on this site is for informational purposes only and is not intended as a substitute for advice from your physician or other health care professional or any information contained on or in any product label or packaging. You should not stop taking any medication without first consulting your physician. Of particular importance in this profile is serum ferritin (SF) and transferrin saturation (TS). Examples include: According to the National Heart, Lung and Blood Institute, not everyone who has hemochromatosis will have signs and symptoms, and though estimates vary, as many as half of those with the disease may not have any initial symptoms. In either case, lab testing can be an essential first step in identifying the root cause of too much iron. Early symptoms include severe fatigue (74%), impotence (45%), and arthralgia (44%). These disorders are caused by mutations in a different gene, one called HJV that causes changes in a protein called hemojuvelin that also affects iron metabolism. Suspicion rises with a ferritin over 300 in men and over 200 in women. If therapeutic phlebotomy has been recommended, it is essential to monitor your blood levels to ensure you don’t give too much blood too fast. Anemia is a condition in which red blood cells are fewer or smaller than normal, which means they carry less oxygen to the body’s cells. The two most important tests to begin diagnosing iron overload are transferrin saturation and ferritin. Hemochromatosis that is not inherited is called secondary hemochromatosis. Entire families may be impacted without their knowledge! Accessed on 9/28/17. Transferrin saturation — a calculation using the iron and TIBC test results, representing the percentage of the transferrin that is saturated with iron; it is elevated with hereditary hemochromatosis (HH) but is not specific for it. Hemochromatosis. Hemochromatosis Lab Tests. Accessed June 2009. Some people don’t fit the typical profile, so their healthcare practitioner doesn’t think it’s necessary. 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