What is hereditary hemochromatosis?

Hereditary hemochromatosis is an inherited condition that causes the body to store too much iron. Normally, your body absorbs the amount of iron it needs from food. With this condition, extra iron builds up over time and can collect in organs like the liver, heart, pancreas, and joints.

Too much iron in the body can eventually lead to serious health problems if it is not treated. Early diagnosis and ongoing care can help prevent long-term complications.

Hereditary hemochromatosis is caused by inherited gene changes that affect how the body handles iron. A person is more likely to develop the condition if both parents pass down the affected gene. Family history and Northern European ancestry can increase risk.

Without treatment, iron overload may lead to complications such as liver disease, diabetes, arthritis, or heart problems.

Symptoms

Symptoms of hereditary hemochromatosis often develop slowly and may not appear until adulthood. Some people may not notice signs right away, while others develop symptoms as iron levels rise.

Common symptoms may include:

• Ongoing fatigue or weakness
• Joint pain
• Abdominal pain
• Darkening or bronzing of the skin
• Mood changes, including irritability or depression
• Loss of sex drive
• Erectile dysfunction
• Irregular or stopped menstrual periods

How is it diagnosed?

Healthcare providers often diagnose hereditary hemochromatosis with blood testing. These tests measure iron levels and look for signs that the body is storing too much iron.

Diagnosis may include:

• A physical exam and review of symptoms
• Blood tests for ferritin and transferrin saturation
• Genetic testing to look for inherited gene changes
• Imaging tests or liver biopsy in certain cases to check for organ damage

Finding the condition early can help reduce the risk of permanent organ damage.

How is it treated?

Treatment focuses on lowering iron levels and preventing complications. In many cases, providers begin with conservative treatment before addressing any organ damage or related conditions.

The most common treatment is therapeutic phlebotomy, which removes blood from the body on a regular schedule. This helps lower iron levels over time. Some people need frequent treatments at first, followed by maintenance treatments later.

Other treatment approaches may include:

• Medicines that help remove excess iron when phlebotomy is not recommended
• Avoiding iron supplements unless directed by a provider
• Limiting alcohol intake to protect the liver
• Monitoring iron levels through routine blood tests
• Treating related conditions such as diabetes or heart disease

Many people with hereditary hemochromatosis can live healthy, active lives when the condition is managed early and consistently.