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

Most people think too much iron is a good thing - after all, iron helps carry oxygen in your blood. But when your body can’t get rid of excess iron, it starts storing it where it shouldn’t: in your liver, heart, pancreas, and joints. This isn’t just a minor imbalance. It’s hemochromatosis, a silent genetic disorder that slowly destroys organs over decades - and it’s far more common than you think.

What Exactly Is Hemochromatosis?

Hemochromatosis is a hereditary condition where your body absorbs too much iron from food. Normally, your gut adjusts how much iron it takes in based on your needs. But with hemochromatosis, that system breaks down. You keep absorbing iron even when you don’t need it - and your body has no way to flush it out. Over time, that extra iron builds up like rust inside your organs.

This isn’t something you catch from diet or supplements. It’s inherited. About 1 in 200 people of Northern European descent carry two copies of the faulty HFE gene - usually the C282Y mutation - and will develop iron overload if untreated. In Ireland, Scotland, and Wales, the rate is even higher: 1 in 83 people carry the gene. Most people don’t know they have it until their liver or joints start failing.

How Does Iron Damage Your Liver?

The liver is ground zero for iron overload. It’s the main storage site, and when it gets flooded, things go wrong fast. Iron triggers inflammation, scarring, and eventually, cirrhosis. By the time symptoms show up, the damage may already be advanced.

Here’s how it progresses:

• Early stage (ferritin 300-1,000 ng/mL): Fatigue, joint pain, abdominal discomfort. No visible damage yet.
• Mid stage (ferritin 1,000-3,000 ng/mL): Liver enzymes rise. Fibrosis begins. Diabetes may develop as iron kills insulin-producing cells in the pancreas.
• Advanced stage (ferritin >3,000 ng/mL): Cirrhosis, liver cancer, or liver failure can follow. Once cirrhosis sets in, your risk of liver cancer jumps 20-fold.

Studies show that if your ferritin level is over 1,000 ng/mL at diagnosis, you have a 50-75% chance of already having cirrhosis. And once cirrhosis is there, your 10-year survival rate drops to about 60%. But if you catch it early - before ferritin hits 1,000 - your survival rate stays above 95%.

Why Do Symptoms Take So Long to Show Up?

Iron builds up slowly - about half a gram per year. That means it can take 20-30 years to reach dangerous levels. Men usually start showing symptoms in their 30s or 40s. Women often don’t notice anything until after menopause, because monthly blood loss used to protect them.

Early signs are vague and easily blamed on stress, aging, or depression:

• Constant tiredness (74% of patients)
• Joint pain, especially in knuckles and knees (65%)
• Loss of sex drive or erectile dysfunction (54%)
• Darkening skin (bronze or gray tint, 45%)
• Abdominal pain or bloating (38%)

Doctors rarely test for iron overload unless someone has liver disease or diabetes. That’s why most patients see 3-5 doctors over 5-7 years before getting the right diagnosis. One Reddit user described waiting 8 years before his ferritin hit 2,850 ng/mL - by then, he needed 62 phlebotomies to get back to normal.

How Is It Diagnosed?

You don’t need a biopsy anymore. Two simple blood tests tell the story:

1. Transferrin saturation - measures how much iron is bound to the transport protein. If it’s above 45%, that’s a red flag.
2. Serum ferritin - shows how much stored iron you have. Over 300 ng/mL in men or 200 ng/mL in women means you need further testing.

If those are high, a genetic test for the HFE gene (C282Y, H63D) confirms it. The C282Y homozygous mutation accounts for 80-95% of cases. Other types exist, but they’re rare.

Today, genetic testing costs $150-$300 - down from $1,200 in 2000. Many insurance plans cover it if your doctor suspects hemochromatosis. And if you’re diagnosed, your siblings and children should be tested too - 70% of cases are found through family screening.

Phlebotomy: The Simple, Free Treatment That Saves Lives

There’s no drug for hemochromatosis. But there’s a treatment that’s been used since the 1950s - and it works better than any pill ever could: phlebotomy.

It’s just like donating blood - except it’s medical, not voluntary. Every time you give 450-500 mL of blood, you remove about 200-250 mg of iron. Your body doesn’t make new red blood cells fast enough to replace the iron you lose, so your stored iron drops.

The treatment has two phases:

1. Induction: Weekly phlebotomy until ferritin hits 50 ng/mL. This takes 12-18 months for most people with advanced overload. One patient needed 62 sessions over 15 months.
2. Maintenance: Once iron is normal, you switch to phlebotomy every 2-4 months to keep ferritin between 50-100 ng/mL. Most people need 4-6 sessions a year.

Cost? $0-$50 per session, covered by most insurance. Compare that to iron-chelating drugs like deferasirox - which cost $25,000-$35,000 a year and come with kidney and liver risks.

And the results? Patients who stick with it report near-total symptom reversal. Fatigue lifts. Joint pain fades. Skin color returns to normal. Liver enzymes drop. Diabetes improves or disappears.

What If You Can’t Do Phlebotomy?

Some people can’t tolerate regular blood draws. Maybe they have anemia, heart failure, or poor veins. In those cases, doctors turn to iron-chelating drugs - but only as a last resort.

Chelators bind to iron and help your body excrete it through urine or stool. But they’re expensive, have side effects, and don’t work as well as phlebotomy. They’re also not approved for HFE-related hemochromatosis - only for secondary iron overload from blood transfusions.

There’s hope on the horizon. A new drug called PTG-300 mimics hepcidin - the hormone your body should be making to block iron absorption. Early trials show it cuts transferrin saturation by over 50% in 12 weeks. But it’s still experimental. Phlebotomy remains the gold standard.

Why Most People Never Get Treated

It’s not that the treatment doesn’t work. It’s that most people never get diagnosed - and those who do often quit treatment too soon.

Here’s what happens:

• After 6-12 months of phlebotomy, symptoms vanish. People think they’re cured and stop coming in.
• Iron starts building up again. Liver damage resumes.
• Five years later, they’re back in the hospital with cirrhosis.

A 2022 survey found that 42% of patients experience “treatment fatigue.” They’re tired of the appointments, the needles, the routine. But stopping means risking death.

Another problem? Blood donation centers often won’t accept therapeutic phlebotomy. You need to go to a hospital or specialized clinic. Scheduling can be a nightmare - especially for older patients with bad veins.

Doctors don’t help either. Only 12% of primary care physicians routinely check transferrin saturation in patients with fatigue or joint pain. Most still think it’s “just aging.”

What You Can Do Now

If you have unexplained fatigue, joint pain, or liver problems - especially if you’re of Northern European descent - ask your doctor for two simple tests: transferrin saturation and serum ferritin. Don’t wait for a specialist to order them. Push for it.

If you’re diagnosed:

• Start phlebotomy immediately - don’t wait for symptoms to worsen.
• Keep up with maintenance sessions. This isn’t a cure - it’s lifelong management.
• Avoid iron supplements, vitamin C with meals (it boosts iron absorption), and raw shellfish (risk of deadly infection in iron-overloaded people).
• Get screened for diabetes and heart problems - they often come with hemochromatosis.
• Tell your family. Your siblings and kids should get tested.

Early treatment doesn’t just prevent liver failure. It prevents heart attacks, diabetes, arthritis, and early death. It’s one of the few genetic diseases where a simple, cheap, and safe treatment can completely change your life expectancy.

What’s Next for Hemochromatosis?

Researchers are now looking at polygenic risk scores - combining dozens of genes beyond HFE to predict who will develop severe iron overload. A 2023 study showed 89% accuracy using 27 genetic markers. That could mean screening entire populations in the future.

Meanwhile, MRI scans can now measure liver iron without a biopsy. The R2* technique gives exact numbers, helping doctors track progress without invasive procedures.

But the biggest breakthrough isn’t a new drug or test. It’s awareness. Hemochromatosis is the most common genetic disorder in white populations - yet it’s still underdiagnosed by 85-90%. If you know the signs, you can save yourself - or someone you love - from a preventable death.