Hemochromatosis

Overview

Hemochromatosis is a condition where the body absorbs too much iron, causing iron to build up in organs such as the liver, heart, pancreas, and joints. Because the body has no natural way to get rid of extra iron, levels gradually rise and eventually damage tissues if not treated.

Most cases are genetic, caused by mutations in the HFE gene, which regulates how much iron the intestines absorb. The most common mutation is C282Y, and people who inherit two copies (one from each parent) are at the highest risk of developing hereditary hemochromatosis.

Secondary forms can occur when iron builds up from other conditions, such as multiple blood transfusions used to treat chronic anemia.

What Causes Hemochromatosis?

Primary (Hereditary) Hemochromatosis

Caused by inherited mutations in the HFE gene, most often C282Y, less commonly H63D.
Leads to increased iron absorption, even if dietary iron intake is normal.
Excess iron is stored in organs and builds up over many years.

Secondary Hemochromatosis

Caused by iron overload from outside sources, especially:
Frequent or long‑term blood transfusions
Certain liver diseases
Severe chronic anemias
The body stores iron from transfused red blood cells and cannot remove the excess iron.

Symptoms

Symptoms vary and may not appear for many years. Many people are diagnosed only after routine bloodwork or screening due to family history. Early symptoms may include:

Joint pain

(the most common issue reported)

Fatigue and weakness

Abdominal pain or liver discomfort

Bronze or gray discoloration of the skin

(“bronzing”)

Loss of sex drive or erectile dysfunction; missed periods in women

Swelling, shortness of breath

or heart‑related symptoms as iron accumulates over time

Severe untreated iron overload can lead to complications such as cirrhosis, diabetes, heart failure, and arthritis.

How Hemochromatosis Is Diagnosed

Hemochromatosis is usually found through blood tests that measure:

Iron levels
Transferrin saturation
Ferritin (iron stores)

Genetic testing can confirm HFE mutations in suspected hereditary cases. In some situations, providers may recommend a liver biopsy or imaging to assess organ damage.

Treatment Options

Removing blood regularly is the most effective way to reduce iron levels in the body because iron is stored in red blood cells. This is the standard treatment for hereditary hemochromatosis and is offered at ILCC locations such as Peoria, Bloomington, and Galesburg.

For people who cannot undergo phlebotomy, such as those who are transfusion‑dependent, medications called chelators help remove excess iron from the body.

Your provider may recommend:

Avoiding iron supplements and multivitamins containing iron
Avoiding vitamin C supplements (which increase iron absorption)
Limiting alcohol—especially important if liver disease is present
Avoiding raw shellfish due to increased infection risk

Early treatment can prevent most complications and improve long‑term health.

Living With Hemochromatosis

Most people can live full, active lives when hemochromatosis is properly managed. Ongoing care includes:

Regular monitoring of ferritin and transferrin saturation

Continuing phlebotomy as needed

Watching for symptoms of joint pain, fatigue, or organ‑related issues

If you have a family history of hemochromatosis, your provider may recommend genetic screening for close relatives.

Why Choose Illinois CancerCare

A blood disorder diagnosis can feel overwhelming. At Illinois CancerCare, we are committed to ensuring you never have to face it alone. Providing advanced, comprehensive hematology and oncology care for our patients is at the heart of everything we do. Since 1977, our specialists have focused on individualized, evidence-based treatment plans, access to world-class clinical trials, and thorough follow-up. With Illinois CancerCare, you can move forward with confidence knowing trusted expertise and compassionate support are always close to home‑based treatment plans, access to world‑class clinical trials, and thorough follow‑up.

Sources & Patient Friendly References

Information sourced from Mayo Clinic and NIDDKD (National Institute of Diabetes and Digestive and Kidney Diseases).