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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 (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.


The two types of hemochromatosis are primary and secondary. Primary hemochromatosis is caused by a defect in the genes that... Read more about Hemochromatosis

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.

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.

Hemochromatosis gene (HFE) polymorphisms and risk of type 2 diabetes mellitus: a meta-analysis

The hemochromatosis gene (HFE) has been involved in the etiology of type 2 diabetes mellitus and investigated in numerous epidemiologic studies. The current meta-analysis was conducted to evaluate the gene-disease association in relevant studies. Electronic literature search was performed on June 18, 2011, from databases of PubMed/MEDLINE, EMBASE, and HuGE Navigator. Articles were inspected by 2 authors independently, and data were extracted by identical extraction form. A total of 5,528 type 2 diabetes cases and 6,920 controls in relation to HFE polymorphisms (a cysteine to tyrosine substitution at amino acid position 282 (C282Y) and a histidine to aspartate substitution at amino acid position 63 (H63D)) were included in the meta-analysis (1997-2011). A fixed- or random-effect model was used to calculate the pooled odds ratios based on the results from the heterogeneity tests. An increased odds ratio for type 2 diabetes mellitus was observed in persons carrying a D allele at the H63D polymorphism compared with those with an H allele (odds ratio (OR) = 1.21, 95% confidence interval (CI): 1.03, 1.41; P = 0.02). Moreover, carriers of a D allele had a modestly increased risk compared with persons with the wild genotype (OR = 1.12, 95% CI: 1.00, 1.25; P = 0.04). The C282Y variant was not significantly associated with diabetes risk. In summary, persons with a D allele may have a moderately increased risk of type 2 diabetes mellitus.

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More about Hemochromatosis

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Also called: Haemochromatosis, Iron overload disease

Other terms to know:
Cirrhosis, Genetic, Iron

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