What is the definition of Hemochromatosis?

Hemochromatosis is a condition in which there is too much iron in the body. It is also called iron overload.

What are the alternative names for Hemochromatosis?

Iron overload; Blood transfusion - hemochromatosis

What are the causes for Hemochromatosis?

Hemochromatosis may be a genetic disorder passed down through families.

  • People with this type absorb too much iron through their digestive tract. Iron builds up in the body. The liver, heart, and pancreas are common organs where iron builds up.
  • It is present at birth, but may not be diagnosed for years.

Hemochromatosis may also occur as a result of:

  • Other blood disorders, such as thalassemia or certain anemias. Too many blood transfusions over time may lead to iron overload.
  • Long-term alcohol use and other health conditions.

This disorder affects more men than women. It is common in white people of northern European descent.

What are the symptoms for Hemochromatosis?

Symptoms may include any of the following:

  • Abdominal pain
  • Fatigue, lack of energy, weakness
  • Generalized darkening of skin color (often referred to as bronzing)
  • Joint pain
  • Loss of body hair
  • Loss of sexual desire
  • Weight loss

What are the current treatments for Hemochromatosis?

The goal of treatment is to remove excess iron from the body and treat any organ damage.

A procedure called phlebotomy is the best method for removing excess iron from the body:

  • One half liter of blood is removed from the body each week until the body's iron stores are depleted. This may take many months to do.
  • After that, the procedure may be done less often to maintain normal iron storage.

Why the procedure is needed depends on your symptoms and levels of hemoglobin and serum ferritin and how much iron you take in your diet.

Other health problems such as diabetes, decreased testosterone levels in men, arthritis, liver failure, and heart failure will be treated.

If you are diagnosed with hemochromatosis, your provider may recommend a diet to reduce how much iron is absorbed through your digestive tract. Your provider may recommend the following:

  • Do not drink alcohol, especially if you have liver damage.
  • Do not take iron pills or vitamins containing iron.
  • Do not use iron cookware.
  • Limit foods fortified with iron, such as 100% iron-fortified breakfast cereals.

What is the outlook (prognosis) for Hemochromatosis?

Untreated, iron overload can lead to liver damage. 

Extra iron may also build up in other areas of the body, including the thyroid gland, testicles, pancreas, pituitary gland, heart, or joints. Early treatment can help prevent complications such as liver disease, heart disease, arthritis or diabetes.

How well you do depends on the amount of organ damage. Some organ damage can be reversed when hemochromatosis is detected early and treated aggressively with phlebotomy.

What are the possible complications for Hemochromatosis?

Complications include:

  • Liver cirrhosis
  • Liver failure
  • Liver cancer

The disease may lead to the development of:

  • Arthritis
  • Diabetes
  • Heart problems
  • Increased risk for certain bacterial infections
  • Testicular atrophy
  • Skin color changes

When should I contact a medical professional for Hemochromatosis?

Call your provider if symptoms of hemochromatosis develop.

Call for an appointment with your provider (for screening) if a family member has been diagnosed with hemochromatosis.

How do I prevent Hemochromatosis?

Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred in other affected relatives.

Hepatomegaly

REFERENCES

Bacon BR, Fleming RE. Hemochromatosis. In: Feldman M, Friedman LS, Brandt LJ, eds. Sleisenger and Fordtran's Gastrointestinal and Liver Disease: Pathophysiology/Diagnosis/Management. 11th ed. Philadelphia, PA: Elsevier; 2021:chap 75.

Brittenham GM. Disorders of iron homeostasis: iron deficiency and overload. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 36.

  • Condition: Patients with Chronic Hepatitis C (HCV) with Abnormal Iron Studies
  • Journal: Annals of hepatology
  • Treatment Used: Viral Eradication
  • Number of Patients: 27
  • Published —
This study assessed the effect of hepatitis C infection (HCV) eradication in patients with abnormal serum iron studies prior to treatment with direct-acting antiviral agents (DAAs).
  • Condition: Hemochromatosis
  • Journal: The Journal of arthroplasty
  • Treatment Used: Contemporary Total Hip and Total Knee Arthroplasty (TKA)
  • Number of Patients: 29
  • Published —
This study analyzed outcomes of patients with hemochromatosis (excessive iron) who received either total hip arthroplasty (replacement; THA) or total knee arthroplasty (TKA).
Clinical Trial
  • Status: Not yet recruiting
  • Intervention Type: Radiation
  • Participants: 80
  • Start Date: May 2021
MRI-based Quantitative Susceptibility Mapping of Hepatic Iron Overload
Clinical Trial
  • Status: Not yet recruiting
  • Phase: N/A
  • Intervention Type: Biological, Procedure, Other
  • Participants: 240
  • Start Date: May 2021
Impact of Transferrin Saturation Guided Maintenance Treatment on Quality of Life in HFE Haemochromatosis