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Hemochromatosis

A disease that occurs when the body absorbs too much iron or receives many blood transfusions. The body stores the excess iron in the liver, pancreas, and other organs and can cause cirrhosis. Also called iron overload disease.

PubMed Health Glossary
(Source: NIH - National Institute of Diabetes and Digestive and Kidney Diseases)

Hemochromatosis

Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much iron builds up in your body (iron overload). Iron is a mineral found in many foods.

Too much iron is toxic to your body. It can poison your organs and cause organ failure. In hemochromatosis, iron can build up in most of your body's organs, but especially in the liver, heart, and pancreas.

Too much iron in the liver can cause an enlarged liver, liver failure, liver cancer, or cirrhosis (sir-RO-sis). Cirrhosis is scarring of the liver, which causes the organ to not work well.

Too much iron in the heart can cause irregular heartbeats called arrhythmias (ah-RITH-me-ahs) and heart failure. Too much iron in the pancreas can lead to diabetes.

If hemochromatosis isn't treated, it may even cause death....Read more about Hemochromatosis
NIH - National Heart, Lung, and Blood Institute

What works? Research summarized

Evidence reviews

Screening for Hereditary Hemochromatosis: A Focused Evidence Review [Internet]

To assess evidence sufficiency or insufficiency for hereditary hemochromatosis screening relating to two main United States Preventive Services Task Force (USPSTF) criteria: the burden of suffering and the potential effectiveness of a preventive intervention.

Treatments for hereditary haemochromatosis

Hereditary haemochromatosis is an inherited genetic disorder (derived from one's parents) resulting in excessive iron accumulation in the body. Some people develop liver damage leading to liver failure, heart damage leading to heart failure, impotence (inability for a man to have an erection or orgasm), diabetes, arthritis (joint pain and swelling), and skin pigmentation (colouring) because of excessive iron accumulation. Several treatments are used to treat hereditary haemochromatosis but the best way is not clear. We searched for randomised clinical trials (well‐design clinical studies where people are randomly put into one of two or more treatment groups) reported to March 2016. We included trials in which participants had not had a liver transplant. Apart from using standard Cochrane methods which allow comparison of only two treatments at a time (direct comparison), we planned to use an advanced method which allows comparison of the many different treatments which are individually compared in the trials (network meta‐analysis). However, because there was only one comparison, we used standard Cochrane methodology.

Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation

Hereditary haemochromatosis is an autosomal recessive disorder of iron metabolism that leads to excessive iron absorption and progressive abnormal deposition of iron in vital organs. A common causative mutation has been identified but not all homozygotes for the mutation will develop the phenotypic expression of the condition. Treatment by phlebotomy is simple and effective. The best diagnostic strategy for detecting hereditary haemochromatosis using DNA testing is unclear.

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Summaries for consumers

Treatments for hereditary haemochromatosis

Hereditary haemochromatosis is an inherited genetic disorder (derived from one's parents) resulting in excessive iron accumulation in the body. Some people develop liver damage leading to liver failure, heart damage leading to heart failure, impotence (inability for a man to have an erection or orgasm), diabetes, arthritis (joint pain and swelling), and skin pigmentation (colouring) because of excessive iron accumulation. Several treatments are used to treat hereditary haemochromatosis but the best way is not clear. We searched for randomised clinical trials (well‐design clinical studies where people are randomly put into one of two or more treatment groups) reported to March 2016. We included trials in which participants had not had a liver transplant. Apart from using standard Cochrane methods which allow comparison of only two treatments at a time (direct comparison), we planned to use an advanced method which allows comparison of the many different treatments which are individually compared in the trials (network meta‐analysis). However, because there was only one comparison, we used standard Cochrane methodology.

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More about Hemochromatosis

Photo of an adult

Also called: Haemochromatosis, Iron overload disease

Other terms to know:
Cirrhosis, Genetic, Iron

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