Iron Overload - Facts On Hemochromatosis

Hemochromatosis

Hemochromatosis (also known as hereditary hemochromatosis) is an inherited disorder of iron metabolism that occurs primarily in Caucasians. People with hemochromatosis absorb more iron than their body needs. As the body does not have a way to excrete excess iron, there is a progressive buildup of iron in tissues and organs. Eventually, the iron overload can lead to dysfunction and failure of several organs, notably the heart, liver, and endocrine portion of the pancreas. Complications include arthritis, diabetes, liver cirrhosis, heart arrhythmias and failure, and an increase in skin pigmentation termed "bronzing."

Risk factors
Having two copies of a mutated HFE gene is the greatest risk factor for hemochromatosis. Other risk factors include:

Family history. If you have a close relative, such as a parent or sibling, with hemochromatosis, you're more likely to develop the disease.

Ethnicity. People of Northern European descent — British, Dutch, German, Irish and French — are more prone to hemochromatosis than are people of other ethnic backgrounds. Hemochromatosis is less common in blacks, Hispanics and Asian-Americans.

Sex. Men are five times as likely as women are to develop iron overload, and they usually experience symptoms at an earlier age. Because women lose iron with menstruation and pregnancy, they tend to store less of the mineral than men do. After menopause or a hysterectomy, the risk for women increases.

Approximately 1 in 10 Caucasians have one abnormal (or mutated) copy of the gene associated with hereditary hemochromatosis and are called carriers. Carriers are not at risk for developing iron overload. About 1 in every 300 Caucasians has two mutated copies of the gene associated with HH and is at risk for developing iron overload and clinical symptoms. However, most people who carry two mutated genes never develop signs and symptoms of the disease. The reason for this is unknown, and research is ongoing to determine the percentage of individuals who eventually become sick with the disease.

The American Hemochromatosis Society has stated laboratory testing for hemochromatosis begins with two blood tests, iron and TIBC, from which the transferrin saturation is calculated. Serum ferritin is frequently measured as well to evaluate the body's iron stores and estimate the degree of iron overload. The values for both tests are elevated in patients with hemochromatosis. Follow-up evaluation in individuals with elevated saturated transferrin; detection of affected individuals and carriers of hereditary hemochromatosis is a
Hereditary Hemochromatosis, DNA Analysis test.


As with all test the results should be reviewed with your Physician.

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