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Hereditary Hemochromatosis: A Shockingly Common Genetic Disease

Category : health tests

What is hereditary hemochromatosis?

Hereditary hemochromatosis, referred to as HH, is a common iron overload genetic disorder. A person with hereditary hemochromatosis absorbs and stores excess amounts of iron in the body. This extra iron settles in the liver, skin, and pancreas and, if left untreated, gradually develops iron deposits that cause organ and tissue deterioration.

What causes hereditary hemochromatosis?

The HFE gene in humans monitors iron absorption; a mutated HFE gene allows too much iron absorbtion and causes hereditary hemochromatosis. People with the hereditary hemochromatosis gene are carriers for the disease. If two carriers have a child, that child will develop hereditary hemochromatosis. Recently, researchers from both the European Molecular Biology Laboratory and the University of Heidelberg, Germany, discovered that HH is a liver disease. Research lab mice that were genetically engineered to lack HFE only in liver cells showed all the key features of hereditary hemochromatosis.

How common is hereditary hemochromatosis?

Hereditary hemochromatosis is one of the most common genetic diseases in the U.S.; almost 1 in 10 American Caucasians carries the gene. Caucasians with ancestry in Northern Europe are most commonly the carriers of the HH gene. Hereditary hemochromatosis is uncommon but still occurs among African Americans, Asian Americans, and Latinos.

What’s the danger of hereditary hemochromatosis?

If left untreated, iron accumulations due to hereditary hemochromatosis could potentially lead to other serious health issues, such as arthritis, liver failure, congestive heart failure, impotence, skin pigmentation, and pancreas damage. Without previous testing for hereditary hemochromatosis, most people are unaware that they have the disease. Most symptoms don’t appear until after about age 30 for men and 50 for women.

Screening for hereditary hemochromatosis is easy.

There is good news, though–testing for hereditary hemochromatosis is painless and simple. A fairly inexpensive, quick cheeck swab test kit you can use at home that will show if you have the mutated HFE gene that results in hereditary hemochromatosis is available from HealthCheckUSA. You shouldn’t take iron supplements until you know your test’s results. If your test’s results do show that you have hereditary hemochromatosis, treatment comes in the form of routine blood removal, usually several times a year.