Hemochromatosis: How Iron Overload Damages Your Liver and How Phlebotomy Fixes It

Hemochromatosis isn’t just about having too much iron-it’s about your body absorbing it when it shouldn’t. Left untreated, that extra iron doesn’t just sit around. It builds up in your liver, heart, pancreas, and joints, quietly causing damage you won’t feel until it’s too late. Most people don’t know they have it until they’re diagnosed with cirrhosis, diabetes, or heart problems. But here’s the truth: if caught early, hemochromatosis is one of the easiest genetic conditions to treat. And the treatment? Simple, cheap, and effective: blood removal. That’s right-phlebotomy, the same process used by blood donors, is the frontline defense against iron overload.

Why Your Body Can’t Handle Extra Iron

Everyone needs iron. It’s in your red blood cells, helping carry oxygen. But your body doesn’t have a natural way to get rid of excess iron. Normally, your liver makes a hormone called hepcidin that tells your gut to slow down iron absorption. In hemochromatosis, that signal breaks. A mutation in the HFE gene-most often the C282Y variant-stops hepcidin from working. So your gut keeps pulling in iron, even when you’ve had enough. Over time, you absorb 2 to 3 times more iron than you should. That’s 0.5 to 1 gram of extra iron every year. After 20 years? You could have 5 grams in your body. The average person only carries about 1 gram.

This isn’t about eating too much red meat. Even if you eat a low-iron diet, your body still overabsorbs. It’s a genetic flaw, not a lifestyle mistake. And it’s more common than you think. In people of Northern European descent-especially those with Irish, Scottish, or Welsh roots-about 1 in 83 carry two copies of the faulty gene. That’s the kind of risk that makes it the most common inherited disorder in those populations.

What Symptoms You Might Miss

Early hemochromatosis doesn’t scream for attention. It whispers. Fatigue? You blame it on stress. Joint pain? You think you’re getting older. Loss of libido? You chalk it up to aging or depression. These are the top three symptoms-and they show up in 65% to 74% of patients before any organ damage is visible.

By the time you notice your skin turning bronze or gray, your liver is already under siege. That’s not a tan-it’s iron staining your skin. Abdominal pain? That’s your liver swelling. Diabetes? That’s iron destroying your pancreas. And if you’re a man over 40 with unexplained heart rhythm problems, it could be iron building up in your heart muscle.

Women are protected for years because they lose iron through menstruation. But after menopause, their risk spikes. Many women are diagnosed only after their husbands or fathers are found to have it. That’s why family screening matters so much.

How Doctors Diagnose It

There’s no single test for hemochromatosis. It’s a two-step puzzle. First, blood tests. If your transferrin saturation is over 45% and your serum ferritin is above 300 ng/mL (or 200 ng/mL for women), that’s a red flag. Ferritin is the storage form of iron-when it’s high, your body is overloaded. Transferrin saturation tells you how much iron is floating in your blood. In secondary iron overload-like from too many blood transfusions-transferrin saturation is normal. In hemochromatosis? It’s sky-high. That’s the key difference.

Next comes genetic testing. If your blood tests look suspicious, you get tested for HFE mutations. The C282Y homozygous mutation (two bad copies) accounts for 80 to 95% of diagnosed cases. H63D or S65C mutations are less likely to cause serious problems on their own. A positive genetic test confirms the diagnosis. No liver biopsy is needed anymore. MRI scans can now measure liver iron accurately without surgery.

But here’s the problem: most doctors don’t think to order these tests. A 2023 study found only 12% of primary care doctors routinely check transferrin saturation in patients with fatigue or joint pain. That’s why the average patient sees five doctors over seven years before getting the right diagnosis. You can’t fix what you don’t diagnose.

Phlebotomy: The Treatment That Works

Phlebotomy is the gold standard. It’s simple: remove 450 to 500 milliliters of blood-about one unit-once a week. Each unit takes out 200 to 250 milligrams of iron. That’s more than your body absorbs in a week. The goal? Bring your ferritin down to between 50 and 100 ng/mL. For someone with ferritin at 2,000 ng/mL, that means 30 to 60 sessions. It can take a year or more.

It’s not glamorous. You’ll feel tired after each session. Your veins might be hard to find after a while. But it works. Studies show that if you start phlebotomy before your ferritin hits 1,000 ng/mL, you have a 99% chance of avoiding cirrhosis and liver cancer. Once you’re at target levels, you switch to maintenance: every 2 to 4 months, depending on how fast your iron builds back up. Most people need 4 to 6 treatments a year for life.

And it’s cheap. Each session costs $0 to $50 if done at a blood center that accepts therapeutic donations. Compare that to iron chelation drugs like deferasirox, which cost $25,000 to $35,000 a year. Chelation is only used when someone can’t tolerate phlebotomy-because of heart failure, severe anemia, or other reasons.

What Happens If You Don’t Treat It

Untreated hemochromatosis doesn’t just cause discomfort. It kills. Once ferritin climbs above 1,000 ng/mL, your risk of cirrhosis jumps to 50 to 75%. And once cirrhosis sets in, your 10-year survival rate drops to 60%. Liver cancer risk rises sharply. Heart failure, diabetes, and arthritis become common. Even if you don’t die from it, your quality of life plummets.

One patient from the Iron Disorders Institute described waiting eight years for a diagnosis. By then, his ferritin was 2,850 ng/mL. He needed 62 phlebotomies. He lost his job. He couldn’t play with his kids. He didn’t know he was sick until he was almost broken.

But here’s the flip side: another patient started treatment at ferritin 400 ng/mL. Within six months, his energy came back. His joint pain vanished. His liver enzymes normalized. He’s now on maintenance and feels better than he did in his 30s.

Living With Hemochromatosis

Once you’re on a maintenance schedule, life returns to normal. You can still eat red meat, drink alcohol in moderation, and live without restrictions. But there are a few things to avoid. Don’t take iron supplements. Don’t take vitamin C with meals-it boosts iron absorption. Don’t drink raw shellfish-it can carry bacteria that thrive in iron-rich blood and cause deadly infections.

Family screening is critical. If you’re diagnosed, your siblings and children should be tested. About 70% of cases are found through family screening after one person is diagnosed. Genetic testing now costs as little as $150. It’s worth it.

Many patients feel fine after a few months of phlebotomy and stop coming in. That’s a mistake. Iron builds back up slowly. Stopping treatment means you’re back on the path to organ damage. The goal isn’t to feel better-it’s to stay protected for life.

What’s Next for Treatment

Researchers are working on drugs that mimic hepcidin-the hormone your body can’t make. One experimental drug, PTG-300, has shown promise in early trials, reducing iron levels without needing blood removal. It’s not available yet, but it could change the game for people who can’t tolerate phlebotomy.

For now, though, the best tool we have is still the oldest: a needle and a bag. It’s not sexy. It’s not high-tech. But it’s free, safe, and proven to save lives. The real challenge isn’t finding a cure-it’s finding the people who need it before it’s too late.