What hemochromatosis is

Hemochromatosis is a condition where the body absorbs too much iron and stores the excess in organs like the liver, heart, and pancreas. There are two forms:

Primary (genetic)

The most common type in people of Northern European descent. It's caused by mutations in the HFE gene, usually C282Y or H63D. If you've got two copies of C282Y (homozygous), you're at the highest risk. One copy plus one H63D, or just heterozygous status, is milder.

Secondary (acquired)

Caused by something other than genetics:

• Frequent blood transfusions (the most common cause), seen in thalassemia and sickle cell disease.
• Chronic liver disease (hepatitis C, alcoholic liver disease).
• Conditions that destroy red blood cells faster than normal, which dumps iron back into circulation.

Who's at risk

• Family history. First-degree relatives of someone with hereditary hemochromatosis should be screened. The HFE mutation is recessive, so siblings are particularly at risk.
• Northern European ancestry. C282Y is most common in this group.
• Regular transfusions. Each unit of blood adds about 250 mg of iron, and the body has no efficient way to get rid of it.
• Chronic liver disease or hemolytic anemias.

Dietary iron isn't usually enough to cause overload on its own, but in people with HFE mutations, high heme iron intake (red meat, iron-fortified foods) and alcohol can make things worse.

How iron metabolism works (briefly)

Normally, the body absorbs only what it needs. Iron gets absorbed in the duodenum and stored in ferritin. A hormone called hepcidin keeps absorption in check.

In hemochromatosis, hepcidin signaling is broken. The gut keeps absorbing iron even when stores are already full. Over decades, iron builds up in the liver, pancreas, heart, and skin.

What happens if it's missed

Untreated hemochromatosis can cause:

• Liver: fatty liver, then fibrosis, then cirrhosis, and eventually liver cancer.
• Pancreas: "bronze diabetes," named for the skin pigmentation that goes with it.
• Heart: cardiomyopathy and arrhythmias from iron deposits in heart muscle.
• Joints: arthritis, especially in the hands.

Most of this damage is preventable if caught early. That's why blood testing matters.

The key blood tests

Serum ferritin

Ferritin is the body's main iron storage protein. Serum ferritin is the easiest measure of how much iron you have in reserve.

• Normal: roughly 30 to 300 ng/mL for men, 15 to 200 ng/mL for women.
• In hemochromatosis: often well above 1,000 ng/mL.
• Caveat: ferritin also rises with inflammation, infection, and liver disease. A single high reading isn't enough on its own.

Serum iron

Measures iron circulating in the bloodstream. Useful in combination with TIBC and transferrin saturation, not on its own.

• Normal: 65 to 175 ug/dL in men, 50 to 170 ug/dL in women.

Total Iron-Binding Capacity (TIBC)

Measures how much iron transferrin (the carrier protein) could potentially carry.

• In iron overload, TIBC tends to be low because the body makes less transferrin when iron is plentiful.

Transferrin saturation (the key number)

Calculated as (serum iron / TIBC) x 100. It's the most useful single screening test for hemochromatosis.

• Above 45%: suspicious for iron overload.
• Above 60% to 70%: high suspicion. Get genetic testing.

Liver function tests

ALT, AST, ALP, and bilirubin. Elevated enzymes (especially ALT and AST) can mean iron is starting to damage the liver. Used to monitor the extent of organ involvement.

Genetic testing

If transferrin saturation and ferritin both point to overload, HFE gene testing is the next step. It confirms the diagnosis and lets first-degree relatives get tested too. Screening relatives is one of the most useful things you can do, because catching it before organ damage means treatment is essentially curative.

Putting the results together

No single test diagnoses hemochromatosis on its own. The pattern matters:

• Normal: ferritin and transferrin saturation in range. No further action.
• Suspicious: transferrin saturation above 45% and/or elevated ferritin. Repeat fasting, and consider HFE testing.
• Classic pattern: transferrin saturation around 75%, ferritin above 1,000 ng/mL, and low TIBC. This is hereditary hemochromatosis until proven otherwise.

When to add imaging or biopsy

If ferritin is very high or liver enzymes are off, imaging helps assess organ damage:

• MRI: measures liver iron concentration without a biopsy. It's the modern standard.
• Liver biopsy: rarely needed now, but can still be useful when MRI is unclear or fibrosis needs to be staged.

Treatment

Once diagnosed, treatment is straightforward:

• Phlebotomy. Take out a unit of blood, typically every week or two, until ferritin drops to a safe range. Then it becomes maintenance every few months. This is the gold standard and it works.
• Iron chelation. Used when phlebotomy isn't an option, mainly for transfusion-related overload.
• Diet and lifestyle. Skip iron supplements, vitamin C with meals (it boosts iron absorption), and raw shellfish (high infection risk in iron-overloaded patients). Limit alcohol: it accelerates liver damage. You don't need a no-meat diet.

Bottom line

If you have unexplained fatigue, joint pain, or liver enzyme abnormalities, or a family member with hemochromatosis, ask for ferritin and transferrin saturation. The tests are inexpensive, the disease is treatable, and catching it early prevents almost all the long-term damage.

Disclaimer: This blog post is intended for educational purposes only and should not be taken as medical advice. Always consult your healthcare provider for personal health concerns.