Patient information · General health
Haemochromatosis
one of the few genetic conditions with a simple, effective treatment
Haemochromatosis causes the body to absorb too much iron, which gradually accumulates in the liver, pancreas, heart and joints. It is one of the commonest inherited conditions in people of Northern European descent, it is detected by two straightforward blood tests, and treated early it prevents almost all of the damage.
Seek prompt assessment if you have
- yellowing of the skin or eyes, or abdominal swelling
- chest pain, palpitations or breathlessness
- severe joint pain and swelling, particularly the knuckles
- confusion or drowsiness with known liver disease
- excessive thirst and urination, suggesting diabetes
Advanced iron overload can cause cirrhosis, heart failure and diabetes, all of which are largely preventable if the condition is found early. Once cirrhosis has developed, liver cancer risk rises substantially even after treatment.
Symptoms — and why it is missed
Early symptoms are entirely non-specific and are routinely attributed to age, stress or overwork:
- fatigue — the commonest and least specific symptom
- joint pain, classically the second and third knuckles of the hand — a distinctive and often overlooked clue
- abdominal pain, and loss of libido or erectile dysfunction
- later: bronze or grey skin discolouration, diabetes, liver enlargement, heart rhythm problems
- Symptoms usually appear between 40 and 60 in men, and later in women because menstruation offloads iron
The two tests that find it
Ferritin and transferrin saturation, ideally fasting. A transferrin saturation above 45% with a raised ferritin points to iron overload and should prompt HFE genetic testing. Ferritin alone is not enough — it rises with inflammation, alcohol and fatty liver, so a raised ferritin with normal saturation usually means something else. If you have unexplained fatigue and joint pain, particularly with a family history, ask for both.
Genetics and family
- Most UK cases are caused by two copies of the C282Y variant in the HFE gene, inherited one from each parent.
- It is particularly common in people of Irish, Scottish, Welsh and Northern European ancestry.
- Not everyone with the genes develops iron overload — penetrance is incomplete, and many people with two copies never accumulate significant iron.
- First-degree relatives should be tested — siblings have a one in four chance of the same genotype. Screening a family after one diagnosis is one of the highest-value things in genetic medicine.
Treatment
Venesection — removing a unit of blood, exactly as in blood donation — is the treatment. Each unit removes around 250mg of iron. It is repeated weekly or fortnightly until ferritin falls to target, then at intervals for life. It is simple, cheap and highly effective, and fatigue and liver function usually improve markedly.
Diet and lifestyle
Do
- Avoid alcohol, or keep it very low — it multiplies liver damage
- Avoid iron and vitamin C supplements, and iron-fortified foods
- Drink tea or coffee with meals, which reduces iron absorption
- Have hepatitis A and B vaccination if the liver is affected
- Encourage relatives to be tested
Do not
- Do not take multivitamins containing iron
- Do not eat raw shellfish — a specific infection risk with iron overload
- Do not stop venesection because you feel well
- Do not assume a normal ferritin on treatment means it is cured
- Do not rely on diet alone; it cannot remove stored iron
Why come to us. This condition is found by two blood tests that are frequently not requested, and the people who benefit most are those tested before symptoms appear. We check ferritin and transferrin saturation in-house with results explained the same visit, arrange HFE genetic testing where indicated, assess the liver with ultrasound on site, and screen relatives. Where venesection is needed we arrange it through our CQC-registered partners and monitor you here.
Two blood tests that most people are never offered
Ferritin, transferrin saturation and ultrasound on site. Seven days a week.
Tower Bridge Hospital London
97–99 Whitechapel Road, London E1 1DT
WhatsApp 07903 284 189
info@mhwclinic.co.uk
Open Mon–Sat, 9am–7pm (closed Sundays until September)
In an emergency
Call 999, or go to the Royal London Hospital Emergency Department, Whitechapel Road, London E1 1FR.
When we are closed and it is not an emergency
Call NHS 111 or visit 111.nhs.uk.