Hemochromatosis

Hemochromatosis is a genetic disorder that causes the body to absorb too much iron from food, which can lead to a toxic buildup in the organs. Fortunately, with early diagnosis and effective treatment, patients can prevent organ damage and maintain their long-term health.

A medical illustration showing iron buildup in vital organs like the liver, heart, and pancreas, characteristic of hemochromatosis

What is Hemochromatosis?

Often called "iron overload," hemochromatosis is a condition where excess iron accumulates in the body. While iron is an essential mineral, too much of it can be poisonous, leading to damage in vital organs like the liver, heart, and pancreas.

The liver is particularly vulnerable and is often one of the first organs affected. If left untreated, the iron overload can lead to serious liver diseases, including cirrhosis (advanced scarring), liver failure, and liver cancer.

Because the initial symptoms can be subtle, early detection through screening and genetic testing is crucial for preventing these complications.

Causes and Genetics

The most common cause of hemochromatosis is a mutation in the HFE gene, which controls the amount of iron your body absorbs. This is known as hereditary hemochromatosis.

Each parent passes down one HFE gene. To develop the condition, a person usually needs to inherit a mutated gene from both parents. Inheriting just one mutated gene makes a person a "carrier," who can pass the gene to their children but is unlikely to experience iron overload.

In rarer cases, iron overload can result from other diseases (like certain types of anemia) or from receiving numerous blood transfusions.

Symptoms of Hemochromatosis

Early symptoms of hemochromatosis are often non-specific and can overlap with many other conditions, which can delay diagnosis. Many people have no symptoms at all in the initial stages.

As iron levels build up, a person with hemochromatosis may experience:

  • Joint pain.
  • Chronic fatigue and weakness.
  • Abdominal pain.
  • Loss of libido.
  • Skin Discoloration: The skin may take on a bronze or grayish tone.

If the condition progresses, it can lead to symptoms related to organ damage, such as signs of diabetes, heart failure, or liver disease.

Diagnosing Hemochromatosis

Diagnosing hemochromatosis involves a series of tests to confirm iron overload and identify the underlying genetic cause.

An evaluation may include:

This test measures the amount of iron bound to transferrin, a protein that transports iron in the blood.

This test measures the amount of iron stored in the body.

A blood test to check for mutations in the HFE gene can confirm a diagnosis of hereditary hemochromatosis.

In some cases, if there is concern about liver damage, a small sample of liver tissue may be removed and examined to measure the iron content and assess the degree of scarring.

Treatment and Management Options

The good news is that hemochromatosis is very treatable. The goal is to remove the excess iron from the body and prevent organ damage.

The primary treatment is therapeutic phlebotomy:

This is the process of removing blood from your body, similar to donating blood. Each pint of blood removed contains a significant amount of iron. Initially, you may need to have blood drawn once or twice a week until your iron levels return to normal.

Once your iron levels are stabilized, you will continue with maintenance phlebotomy sessions, typically every two to four months, for the rest of your life to prevent iron from building up again.

While you will not need a highly restrictive diet, your doctor will likely advise you to avoid iron supplements, limit vitamin C supplements (which increase iron absorption), and reduce your alcohol intake to protect your liver.

Find Hemochromatosis Screening in Westlake or Brooklyn, OH

With effective management, people with hemochromatosis can lead healthy, fulfilling lives. Our team at North Shore Gastroenterology offers expert diagnosis, ongoing treatment, and personalized care to support you every step of the way.

Contact us today at (440) 808-1212 or request an appointment online to schedule a visit.