saudigastro.com/patients/hemochromatosis
Category
Chronic
Red flags
4
This article is educational and does not replace your doctor's advice. Seek urgent care for any red-flag symptoms.
What is it?
Iron is essential for making red blood cells, but the body has no natural way to get rid of extra iron. In hemochromatosis, the gut absorbs too much iron from food, and it builds up over years in organs such as the liver, pancreas, heart, skin and joints. This can cause cirrhosis (advanced scarring of the liver), diabetes, heart problems and joint pain. Most often the cause is inherited. Many people have no symptoms for years.
How common is it?
The common inherited form is much more frequent in people of Northern European ancestry and less so in other populations, and in our region other iron-overload causes, such as repeated blood transfusions for blood disorders, are more important. Not everyone with the gene change develops iron overload, and men are usually affected earlier than women.
Why does it happen?
The common inherited type is usually due to changes in a gene called HFE, which controls iron absorption, and requires two faulty copies, one from each parent. Other rarer genes exist. Iron overload can also happen without a genetic cause, for instance after many blood transfusions or in some blood diseases. Women are protected for a time by menstrual blood loss and pregnancy.
Symptoms
- Often none, with the condition found on blood tests
- Tiredness and weakness
- Joint pain, especially in the knuckles of the first two fingers, knees and hips
- Abdominal pain, and a feeling of fullness in the upper right abdomen
- Loss of sexual desire, erectile dysfunction or missed periods
- Darkening or bronze color of the skin
- Increased thirst and urination if diabetes develops
Red flags — seek urgent medical care
Vomiting blood or black stools
Possible bleeding from cirrhosis. Go to the emergency department now.
Shortness of breath, swollen legs, palpitations or fainting
Iron can affect the heart. Seek urgent medical care; call emergency services if severe.
Jaundice, abdominal swelling or confusion
May signal advanced liver disease. See a doctor urgently.
Extreme thirst, frequent urination and weight loss
Possible diabetes. Get blood sugar checked soon.
How is it diagnosed?
Blood tests measure transferrin saturation (how full the iron-carrying protein is) and ferritin (a marker of iron stores). If these are high, genetic testing for HFE helps confirm the type. The doctor checks for organ damage with liver tests, FibroScan or MRI (which can estimate iron in the liver), and sometimes a liver biopsy. Blood sugar and heart tests may be done. Relatives are advised to be screened.
Outlook — what to expect
When found and treated before organ damage, life expectancy is usually normal. Treatment can reverse some problems such as tiredness and may improve liver scarring early on, but arthritis and cirrhosis may not fully reverse. Those with cirrhosis need regular screening for liver cancer.
Treatment
Habits & Lifestyle
Regular treatment and sensible habits protect your organs.
- Attend your regular blood tests and treatment sessions
- Avoid alcohol, which adds to liver damage
- Do not take iron tablets or high-dose vitamin C supplements unless your doctor says so
- Have first-degree relatives screened
Diet
Diet changes help a little, but they do not replace treatment.
- Do not use iron-fortified foods or iron supplements unless advised
- You do not need to avoid red meat completely, but moderate large amounts
- Avoid raw shellfish, which can carry harmful bacteria that thrive with extra iron
- Drinking tea with meals reduces iron absorption slightly
Medications
Most people are treated by removing blood. Medicines are used in selected people. Your doctor decides.
- Iron-binding medicines (chelators) may be used if regular blood removal is not possible, for example in anemia
- Treat diabetes, joint pain or heart problems with the usual medicines as your doctor advises
- Acid-reducing medicines may slightly lower iron absorption; ask your doctor
Procedures & Surgery
Phlebotomy (venesection) is the standard treatment.
- Phlebotomy: removing blood regularly, like blood donation, to lower iron stores
- At first it is frequent, then less often to keep levels in range
- Ultrasound surveillance for liver cancer in cirrhosis
- Erythrocytapheresis, a way to remove red cells, is an option in some centers
Questions to ask your doctor
Save this list or print it before your appointment — doctors appreciate prepared patients.
- Which type of iron overload do I have?
- Has the iron affected my liver, heart or pancreas?
- How often do I need blood removal and blood tests?
- Should my family be tested?
- Can I donate blood?
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Status: Approved for publication by SGA; individual clinician review is ongoing · Published 24/04/2026
For general education only; it does not replace your doctor’s advice. Individual clinician review of this guide is ongoing. SGA clinician? Review this guide