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Hemochromatosis

(Hereditary Hemochromatosis [HH]; Primary Hemochromatosis; Familial Hemochromatosis; Secondary Hemochromatosis)

How to Say It: He-moe-chrome-uh-toe-sis

Definition

Hemochromatosis is a disorder where iron builds up in the body. Early treatment can improve outcomes.

There are two types:

  • Hereditary (HH)
  • Secondary

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:

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

CANADIAN RESOURCES

Canadian Liver Foundation
https://www.liver.ca

Health Canada
https://www.canada.ca

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