What is Hemochromatosis? Signs and Symptoms to Watch For

Have you ever heard of a condition where your body stores too much iron? It’s called hemochromatosis, and while it may sound rare, it affects more people than you might think. If not treated early, this condition can cause serious damage to your liver, heart, pancreas, joints, and more.

In this article, we’ll break down what hemochromatosis is, how to spot the warning signs, who is most at risk, and what you can do about it.

What is Hemochromatosis?

Hemochromatosis is a condition where your body absorbs and stores too much iron from the food you eat. Instead of removing the extra iron, your body holds onto it. Over time, this buildup can harm major organs and lead to long-term health problems.
There are different types of hemochromatosis:

Types of Hemochromatosis

1. Hereditary Hemochromatosis (Type 1):
   This is the most common form. It’s caused by mutations in the HFE gene, especially C282Y or H63D. If you inherit two copies, one from each parent, you're more likely to absorb too much iron.
2. Juvenile Hemochromatosis (Type 2):
   A rare form that shows up in teens or young adults. It can cause severe iron overload at an early age.
3. Secondary Hemochromatosis:
   This type isn’t inherited. It develops from conditions like chronic liver disease, blood disorders, or from frequent blood transfusions.
4. Neonatal Hemochromatosis:
   A very rare form affecting newborns, possibly caused by immune system attacks on the baby’s liver.

What Causes Hemochromatosis?

The most common cause is genetics. If you inherit two faulty HFE genes, your body doesn’t regulate iron well. But not everyone who carries these genes will develop the disease.

Other causes include:

• Chronic hepatitis C
• Alcohol-related liver disease
• Certain anemias
• Frequent iron or blood supplements

Who is at Risk?

Anyone can develop hemochromatosis, but some people have a higher risk:

• Men over age 40
• Women after menopause (due to less iron loss from menstruation)
• People with European ancestry, especially Northern Europeans
• Anyone with a family history of hemochromatosis or liver disease
• People with chronic illnesses like diabetes or heart disease

If you fall into any of these groups, talk to your doctor about screening.

Signs and Symptoms to Watch For

In early stages, hemochromatosis may cause no symptoms. That’s why it’s often called a “silent” condition. But over time, as iron builds up, you may notice:

• Extreme fatigue or low energy
• Joint pain, especially in the hands and knuckles
• Unexplained weight loss
• Abdominal discomfort, especially in the upper right side
• Skin darkening (often described as bronze or gray tone)
• Loss of libido or erectile dysfunction
• Irregular heartbeat
• Memory fog or mood swings

Not everyone will have all these signs. Even just one or two symptoms could point to hemochromatosis.

How is Hemochromatosis Diagnosed?

Diagnosis starts with simple blood tests:

• Serum transferrin saturation: Measures how much iron is bound in your blood.
• Serum ferritin: Tells how much iron your body is storing.
• Genetic testing: Confirms if you carry the HFE gene mutations.

If blood tests show high iron levels, your doctor might also order:

• Liver function tests
• Liver biopsy or MRI to check for scarring (fibrosis or cirrhosis)

Early diagnosis is key. Once organ damage begins, it can be hard to reverse.

What Happens If You Don’t Treat It?

If left untreated, iron overload can lead to:

• Liver cirrhosis
• Liver cancer
• Heart problems (arrhythmia or heart failure)
• Type 2 diabetes
• Joint damage (arthritis)
• Chronic fatigue

Some people may even need a liver transplant if the damage is too severe. That’s why early care is critical.

Treatment Options for Hemochromatosis

The good news? Hemochromatosis is very treatable if caught early.

1. Therapeutic Phlebotomy

This is the most common treatment. Your doctor removes blood (like a donation) to lower iron levels. You may need this weekly at first, then less often as levels normalize.

2. Iron Chelation Therapy

If you can’t tolerate blood removal, medication is used to bind and remove iron through urine or stool.

3. Diet and Lifestyle Changes

Simple changes can help manage iron levels:

• Avoid iron-rich foods like red meat, shellfish, and liver
• Limit alcohol (protects your liver)
• Don’t take iron or vitamin C supplements (they increase absorption)
• Drink tea or coffee with meals to reduce iron absorption

Living with Hemochromatosis

Managing hemochromatosis is about balance and awareness. With early treatment and lifestyle changes, most people live long, healthy lives.

Tips for living well:

• Get regular bloodwork to track iron levels
• Stick to a low-iron diet
• Tell family members so they can get tested
• Stay active and manage stress
• Work with a specialist, like a hematologist or gastroenterologist

When to Talk to a Doctor

See your doctor if you:

• Feel tired often without reason
• Have joint pain or liver discomfort
• Notice skin color changes
• Have family members with hemochromatosis

A simple blood test can give you answers—and possibly prevent major complications.

Final Thoughts

Hemochromatosis is a condition that’s often missed—but it doesn’t have to be. Knowing the signs and getting tested early can protect your organs and your overall health.

If you think you might be at risk, don’t wait. Talk to your doctor. Ask for a blood test. Take control of your iron levels and your well-being.