What is hemochromatosis

Many people with the disease don't have any signs or symptoms other than elevated levels of iron in their blood. Hemochromatosis may be identified because of abnormal blood tests done for other reasons or from screening of family members of people diagnosed with the disease.

Because a number of other conditions can also cause elevated ferritin, both blood tests are typically abnormal among people with this disorder and are best performed after you have been fasting. Elevations in one or all of these blood tests for iron can be found in other disorders.

You may need to have the tests repeated for the most accurate results. Genetic testing is recommended for all first-degree relatives — parents, siblings and children — of anyone diagnosed with hemochromatosis. If a mutation is found in only one parent, then children do not need to be tested.

Doctors can treat hereditary hemochromatosis safely and effectively by removing blood from your body phlebotomy on a regular basis, just as if you were donating blood. The goal of phlebotomy is to reduce your iron levels to normal. The amount of blood removed and how often it's removed depend on your age, your overall health and the severity of iron overload. Treating hereditary hemochromatosis can help alleviate symptoms of tiredness, abdominal pain and skin darkening. About the size of a football, it's located mainly in the upper right portion of your abdomen, beneath the diaphragm and above your stomach.

Hereditary hemochromatosis he-moe-kroe-muh-TOE-sis causes your body to absorb too much iron from the food you eat. Excess iron is stored in your organs, especially your liver, heart and pancreas. Too much iron can lead to life-threatening conditions, such as liver disease, heart problems and diabetes. The genes that cause hemochromatosis are inherited, but only a minority of people who have the genes ever develop serious problems.

Signs and symptoms of hereditary hemochromatosis usually appear in midlife. Treatment includes regularly removing blood from your body. Because much of the body's iron is contained in red blood cells, this treatment lowers iron levels.

Some people with hereditary hemochromatosis never have symptoms. Early signs and symptoms often overlap with those of other common conditions. Hereditary hemochromatosis is present at birth. But most people don't experience signs and symptoms until later in life — usually after the age of 40 in men and after age 60 in women.

Women are more likely to develop symptoms after menopause, when they no longer lose iron with menstruation and pregnancy. Back to Haemochromatosis. Symptoms of haemochromatosis usually begin between the ages of 30 and 60, although they can occur earlier. The symptoms tend to develop earlier in men than in women. Hemochromatosis and iron overload: from bench to clinic. Am J Med Sci. Genetic hemochromatosis: Pathophysiology, diagnostic and therapeutic management. Presse Med. Epub Nov The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q Nat Genet.

Am Fam Physician. Identification of Genes for Hereditary Hemochromatosis. Methods Mol Biol. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin SLC11A3 gene. J Clin Invest. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Citation on PubMed Pietrangelo A.

Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Epub Jun