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What is Hemochromatosis
By Peter Whittington

Hemochromatosis (HE-mo-kro-ma-TOE-sis) is a disease in which too much iron builds up in your body

Hereditary Hemochromatosis is the most common genetic disorder of persons of northern European extraction. Most people with hemochromatosis inherit the condition from their parents. If you inherit two hemochromatosis genes, one from each parent, you will have the condition. These two abnormal genes cause your body to absorb more iron than usual from the diet. The most common gene involved in causing Hereditary Hemochromatosis is the HFE gene.

One in seven persons of northern European extraction carries one copy of the mutant HFE gene C282Y.

Approximately 1 in 200 to 300 persons of northern European extraction carry two copies of C282Y.

In some northern European populations e.g. Ireland, Iceland and Brittany the percentage of persons carrying one copy of C282Y is higher. Predictably countries settled by northern Europeans e.g. Australia, South Africa and Canada have high rates of Hereditary Hemochromatosis.

Two copies can predispose to the iron overload disorder hemochromatosis. This may present as chronic fatigue, skin pigmentation, heart irregularities, impotence, diabetes, dysfunction of the liver, cirrhosis or cancer, premature menopause, arthritis or decreased functioning of the thyroid.

Even one copy of C282Y can be associated with too much iron in the liver, high cholesterol, diabetes and the skin disorder porphyria cutanea tarda. Other mutant genes exist and are distributed throughout the world's population.

Effects of Hemochromatosis

In hemochromatosis, iron can build up in most of your body’s organs, but especially in the liver, heart, and pancreas. When this happens, the iron can poison the organs and lead to organ failure.

If Hereditary Hemochromatosis is not treated liver disease may be fatal. Hemochromatosis can lead to enlargement, cirrhosis or cancer of the liver.

Heart Problems.

Hemochromatosis can cause irregular heart rate or rhythm and lead to heart failure

Pancreas.

Hemochromatosis can lead to diabetes mellitus.

Patient Outlook

The morbidity and mortality of Hereditary Hemochromatosis can be reduced by early diagnosis and treatment by phlebotomy or blood letting. Bloodletting or deironing often results in considerable improvement in the health of patients who suffer from Hereditary Hemochromatosis. Early diagnosis and treatment are important. Treatment may be able to prevent, delay, or sometimes reverse complications of the disease

Diet can help. When the diagnosis of hemochromatosis is made it is important to adjust the diet so that too much iron is not being absorbed because of an improper diet. The biggest considerations are not to take medications which contain iron, consume too much alcohol or Vitamin C. Excessive alcohol consumption has shown to greatly increase iron absorption in those with hemochromatosis Vitamin C enhances the absorption of iron. It is wise only to consume a moderate amount and not take Vitamin C tablets. Vitamin C has been known to precipitate heart palpitations in those with hemochromatosis.

Treatment of iron overload disorder hemochromatosis is critical in order to prevent damage to vital organs and serious complications such as diabetes and cirrhosis of the liver. For people who are diagnosed and treated early, normal life spans are possible. If left untreated, hemochromatosis can lead to severe organ damage and even death.

Peter Whittington with his sister Dr Chris Whittington, a Clinical Associate Professor of Family Practice at the University of British Columbia, a Past President of the British Columbia College of Family Physicians an acknowledged expert on Hereditary Hemochromatosis, maintains http://www.ironic-health.com, a site devoted to information about hemochromatosis, the iron overload blood disorder. Peter and Dr Whittington can be contacted at admin@ironic-health.com

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