Haemochromatosis
An inherited condition where the gut absorbs too much iron, which slowly builds up in the liver, joints, pancreas and heart. Common in people of northern European background, easy to test for, and very treatable by giving blood.
Quick answer: Haemochromatosis is an inherited condition causing the body to absorb too much iron. About 1 in 200 people of northern European descent have the gene pair, though many never get iron overload. It’s found with a ferritin and transferrin saturation blood test and an HFE gene test. Regular blood removal (venesection) treats it and prevents organ damage.
How common. One of the most common genetic conditions in Australia. About 1 in 200 people of northern European, especially Celtic, ancestry inherit two copies of the C282Y gene change. About 1 in 8 carries one copy, which doesn’t cause iron overload.
Causes. Changes in the HFE gene lower hepcidin, the hormone that limits iron absorption. Two copies of C282Y cause nearly all cases. Not everyone with two copies gets sick: in an Australian study of over 31,000 people, 28% of men and 1% of women with two copies developed iron-overload disease. Women are protected for years by periods and pregnancy. Alcohol, fatty liver and obesity add to the liver damage.
Symptoms. Often none for years. Early: tiredness, joint pain (classically the knuckles of the index and middle fingers), low libido or erectile problems, and tummy discomfort. Later, untreated overload can cause liver scarring (cirrhosis) and liver cancer, diabetes, heart muscle disease and heart rhythm problems, arthritis and bronze or grey skin.
How it’s diagnosed. Blood tests: a raised transferrin saturation (over 45% points to it) and a raised ferritin, then an HFE gene test. Most high ferritin results are NOT haemochromatosis; inflammation, alcohol and fatty liver are more common causes. If ferritin is over 1000 µg/L or liver tests are abnormal, a liver stiffness scan (FibroScan) or specialist review checks for scarring. Brothers and sisters of anyone diagnosed should be tested, and children once adults.
Treatment
Removing blood removes iron. Started before organ damage, treatment gives a normal life expectancy.
- Main treatmentVenesection (therapeutic blood removal)About 450 to 500 mL removed, usually weekly or fortnightly at first, until ferritin is around 50 µg/L. Then a few times a year to keep ferritin in the 50 to 100 range (EASL 2022).
- Works
- Normalises iron, improves tiredness and liver tests, and prevents cirrhosis if started early; joint damage improves less
- Access
- In Australia, Lifeblood can do it free and use the blood for donation, with a GP referral via its High Ferritin App, if you’re eligible to donate
- Watch for
- Tiredness or dizziness on the day; drink plenty beforehand. Your doctor checks blood count and ferritin.
- If venesection isn’t possibleIron chelationMedicines that bind iron, such as deferasirox, for people who can’t have venesection because of anaemia or heart disease.
- Works
- Lowers iron, but less effective and more side effects than venesection
- Access
- Specialist only
- Watch for
- Kidney and liver side effects; regular blood tests.
- With cirrhosisLiver specialist follow-upSix-monthly ultrasound to watch for liver cancer and other cirrhosis care.
- Works
- Finds liver cancer early
- Access
- Specialist
- Watch for
- Liver cancer risk stays even after iron is removed.
Save your money
Popular, heavily marketed or often asked about, but the evidence is weak or says no.
- ’Iron detox’ diets and cleansesThey don’t remove meaningful iron. Venesection removes around 200 to 250 mg of iron each time; no diet comes close.
- Strict low-iron dietsNot needed with venesection. Just avoid iron supplements and iron-fortified tonics, and don’t take vitamin C supplements, which boost iron absorption.
Living with it
- Keep alcohol low, and avoid it completely if you have liver scarring.
- Avoid iron tablets, multivitamins with iron, and vitamin C supplements.
- Avoid raw shellfish such as oysters: a rare bacterium (Vibrio vulnificus) thrives on iron and can cause severe infection.
- Keep a healthy weight to protect your liver.
- Tell your brothers, sisters and adult children so they can be tested.
See your GP if
- A blood test shows high ferritin or transferrin saturation
- A parent, brother or sister has haemochromatosis
- You have ongoing tiredness, painful knuckles, or erectile problems with no clear cause
- You have abnormal liver tests or diabetes with a family history of iron overload
Get urgent help for vomiting blood, black tarry poo, sudden yellow skin with confusion, or a swollen tummy with drowsiness, which can signal advanced liver disease: call 000 (Australia) or your local emergency number.
Outlook. Excellent if treated before cirrhosis or diabetes develops: life expectancy is normal. Once cirrhosis is present, venesection still helps but liver cancer risk remains. World Haemochromatosis Week is 1 to 7 June: see our health days calendar.
Common questions
What is hemochromatosis?
Hemochromatosis (haemochromatosis) is an inherited condition where the gut absorbs too much iron, which builds up in organs. It’s most often caused by two copies of the C282Y change in the HFE gene.
What are the first signs of hemochromatosis?
Often none. Early symptoms can include tiredness, joint pain (especially the first two knuckles), low libido and tummy discomfort. Many people are found through a routine blood test.
What ferritin level indicates hemochromatosis?
There’s no single cut-off, as ferritin rises with many things. A raised ferritin with a transferrin saturation over 45% suggests haemochromatosis, confirmed with an HFE gene test. Ferritin over 1000 µg/L raises concern for liver damage.
Can I donate blood if I have haemochromatosis?
In Australia, often yes: Lifeblood accepts therapeutic venesection donations from eligible people with a GP referral, so your treatment helps others.
Should I avoid red meat with haemochromatosis?
A strict diet isn’t needed once you’re having venesection. Moderate amounts of meat are fine; avoid iron supplements, vitamin C supplements, raw shellfish and heavy drinking.
Is haemochromatosis more common in men?
Men develop iron overload and complications earlier and more often, because women lose iron through periods and pregnancy. Both sexes inherit it equally.
If I carry one HFE gene, will I get haemochromatosis?
Usually not. Carriers of one C282Y copy don’t develop significant iron overload. Two copies, or C282Y plus H63D occasionally, are needed.
Evidence and more information
- EASL Clinical Practice Guidelines on haemochromatosis, J Hepatol 2022
- Fitzsimons et al, BSH 2018: Diagnosis and therapy of genetic haemochromatosis
- Allen et al, NEJM 2008: Iron-overload-related disease in HFE hereditary hemochromatosis
- Australian Red Cross Lifeblood: GPs key to unlocking donations from people with haemochromatosis
- Better Health Channel (Victorian Government): Haemochromatosis
- NHS: Haemochromatosis
maladywise.com/haemochromatosis/