Hemochromatosis

Hemochromatosis

This is a disorder in which the body is overloaded with iron and this excess iron is stored in your organs, especially the liver, heart and pancreas. Hereditary hemochromatosis (HH) accounts for more than 90% of all cases and is due to a genetic defect which causes your body to absorb too much iron from the food you eat. It is most common in people of northern European descent where it occurs in 1 out of 200 people. It is one of the most common known genetic disorders in white populations. In the United States, close to 1 in 10 people will carry one of the genes for hemochromatosis, but you need to have 2 genes in order to have the disease.

The excess iron stored in organs can damage these organs and, if left untreated, can lead to life-threatening complications such as cirrhosis, heart disease, diabetes and liver cancer. Symptoms may include joint pain, fatigue, darkening of the skin, diabetes, abnormal heart rhythm, impotence and usually occur in mid-life. Diagnosis is suspected when routine bloodwork shows elevated iron saturation and ferritin and the patient is not a heavy alcohol drinker. Genetic testing of the blood can confirm the diagnosis and sometimes a liver biopsy is necessary. Treatment of early stage iron overload includes avoiding iron rich foods, iron-containing supplements, vitamin C (which increases dietary iron absorption) and excess alcohol. More advanced disease requires removal of iron from the blood which is done by regular phlebotomy with close follow-up of your iron levels and blood count. Typically this treatment is very effective at preventing permanent organ damage.