Hemochromatosis
(Hereditary Hemochromatosis [HH]; Primary Hemochromatosis; Familial Hemochromatosis; Secondary Hemochromatosis)
Definition
Hemochromatosis is a disorder where iron builds up in the body. Early treatment can improve outcomes.
There are two types:
- Hereditary (HH)
- Secondary
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Causes
Hereditary hemochromatosis is caused by a faulty gene that is passed from parents to children.
The secondary type may be caused by:
- Blood transfusions
- High iron intake
Risk Factors
Things that may raise the risk of HH are:
- Having other family members with this health problem
- Western or Northern European ancestry
Things that may raise the risk of the secondary type are:
- Certain anemias, such as thalassemia
- Alcohol use disorder which can lead to liver disease
- Chronic liver disease
Symptoms
Most people do not have symptoms. Those who do may have:
- Joint pain
- Tiredness or weakness
- Belly pain
- Weight loss
- Loss of interest in sex
- Problems maintaining an erection (in men)
Diagnosis
The doctor will ask about your symptoms and health history. A physical exam will be done.
Blood tests will be done to check iron levels. This is enough to make the diagnosis. More tests may be done to look for a cause.
Treatment
The goal of treatment is to lower iron levels. Choices are:
- Regularly removing excess iron from the blood
- Medicines to remove excess iron from the blood
- Dietary changes, such as:
- Not eating high iron foods or taking iron supplements
- Not taking vitamin C supplements, which can increase the amount of iron the body absorbs
- Avoiding alcohol
Prevention
HH cannot be prevented. The secondary type may be prevented. It depends on the cause.
RESOURCES:
American Hemochromatosis Society
http://www.americanhs.org
American Society of Hematology
http://www.hematology.org
REFERENCES:
Hemochromatosis. American Liver Foundation website. Available at: https://liverfoundation.org/for-patients/about-the-liver/diseases-of-the-liver/hemochromatosis. Accessed Jamuary 12, 2021.
Hemochromatosis. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/hemochromatosis. Accessed January 12, 2021.
Hemochromatosis. National Institute of Diabetes and Digestive and Kidney Diseases website. Available at: http://www.niddk.nih.gov/health-information/health-topics/liver-disease/hemochromatosis/Pages/facts.aspx. Accessed January 12, 2021.
Pilling L, Tamosauskaite J. Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank BMJ 2019; 364.
Last reviewed February 2020 by EBSCO Medical Review Board Marcin Chwistek, MD Last Updated: 1/12/2021