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Hemochromatosis

At one time this was called an “old white man’s disease” or “bronze diabetes.” It’s not called that anymore. Women tend to show symptoms 10 to 15-years after menopause and all races can be affected (although Caucasians are more frequently affected). One million Americans have the genetic makeup for the classic form, or Type 1 Hereditary Hemochromatosis (HHC); however, an additional 11 million Americans have a combination of the two HHC gene variants that have been proved to cause severe iron overload and lead to the development of diseases such as diabetes, cirrhosis, heightened susceptibility to life-threatening infections, osteoarthritis, hypogonadism (including impotence and/or loss of libido), arrhythmia, heart attack, as well as significantly increased numbers of liver, breast and colorectal cancers.

Iron Disorders Institute states that HHC is the most common, potentially lethal, genetic condition in the U.S. It is also, and by far, the most underdiagnosed genetic condition in the U.S. Although the gene mutations causing HHC were only discovered in 1996, only a small minority of Americans with the genes causing HHC have so far been tested. HHC is an easily treated condition, but only if it’s discovered early, or before too much iron causes irreversible organ or DNA damage. Affected women are generally protected from HHC related disease onset through menopause; although this protection is lost in cases of early menopause (whether natural or surgical). And often, HHC can lead to early menopause as a result of the gene variations alone.

Ironically, doctors do not generally test for iron overload (or HHC) when ordering standard blood test panels for their patients. However, blood tests to determine whether or not a person might have an iron overload condition or HHC can be ordered through DirectLabs. Iron Disorders Institute recommends testing iron storage and saturation levels first, which includes: 1) Serum Iron and Total Iron Binding Capacity (determines blood iron levels and assesses the body’s capacity to transport iron in the blood); 2) Transferrin Saturation Percentage calculation (measures the ratio of serum iron to total iron binding capacity); 3) Ferritin (measures the amount of iron stored in the body); and 3) Hereditary Hemochromatosis genetic test (if indicated by the test results of the iron panel or by family history).

Written by Theresa B. Tannich, Special Projects, DirectLabs, LLC., Gerald Koenig and Cheryl Harrison of the Iron Disorders Institute, updated March 7, 2012

Please visit Hemochromatosis.org  for more information.

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Hemochromatosis, hereditary    $219