Skip to main content

Health condition · Clinically reviewed

Haemochromatosis, iron overload that is treatable when caught early.

Common, inherited and widely under-diagnosed. Iron studies, HFE testing and regular venesection prevent almost every complication if started before the liver, heart and pancreas are damaged.

Jump to treatment
A radiographer guides a patient onto the bed of an advanced 3 Tesla MRI scanner in a London imaging suite

Why trust this guide

  • 01

    Clinically reviewed

    Written by our editorial team and reviewed by a UK hepatologist and haematologist before publication.

  • 02

    Sourced from guidance

    Aligned with NICE, BSH and EASL guidance, and referenced at the end of the page.

  • 03

    Current for 2026

    Reflects modern practice including HFE genetic testing, MRI iron quantification and BSH venesection standards.

Key facts

Haemochromatosis at a glance.

The essentials, in plain English. What it is, the main genetic and secondary forms, and how it is diagnosed and treated in the UK today.

  • What it is

    Iron overload from excessive iron absorption or transfusion. Untreated, iron deposits in the liver, heart, pancreas and joints.

  • Hereditary type 1

    HFE-related (C282Y homozygote most common), autosomal recessive. Common but under-diagnosed, up to 1 in 200 Northern Europeans.

  • Other genetic forms

    Type 2 juvenile (HJV, HAMP), type 3 (TfR2) and type 4 ferroportin disease (autosomal dominant), all managed by specialists.

  • Secondary causes

    Transfusion-dependent anaemia (thalassaemia, sickle cell, MDS), chronic liver disease, chronic alcohol excess and excess iron supplementation.

  • First-line tests

    Transferrin saturation over 45 percent in men or 40 percent in women plus a raised ferritin is the trigger for HFE genetic testing.

  • First-line treatment

    Regular venesection to reduce iron, then lifelong maintenance. Chelation is reserved for selected transfusion-dependent patients.

Why this guide matters

A treatable disease, if caught in time.

Iron overload is silent for years, then damages the liver, heart and pancreas together. The three ideas below shape the rest of this page.

  • Iron studies come first

    Fasting transferrin saturation and ferritin will pick up almost every case worth investigating, long before symptoms mature.

  • Venesection is the treatment

    Regularly removing blood empties iron stores. Started early enough, it prevents cirrhosis, cardiomyopathy and diabetes.

  • Family screening saves relatives

    HFE testing of first-degree relatives is one of the most cost-effective genetic interventions in UK medicine.

How the diagnosis is made

From suspicion to a confirmed plan.

The steps a UK GP, hepatologist and haematologist will normally follow, so you know what to expect and why each stage matters.

  1. 01

    Assessing

    Clinical suspicion

    Fatigue, joint pain (especially the second and third knuckles), abnormal liver tests, diabetes, skin bronzing or a family history should prompt iron studies.

  2. 02

    Assessing

    Transferrin saturation and ferritin

    Fasting transferrin saturation over 45 percent in men or 40 percent in women plus a raised ferritin is the classic first-line pattern.

  3. 03

    Assessing

    Rule out secondary causes

    Assess alcohol intake, chronic liver disease, inflammation and any transfusion or supplement history that can raise ferritin without true overload.

  4. 04

    Confirming

    HFE genetic testing

    Confirms hereditary haemochromatosis. C282Y homozygotes and selected compound heterozygotes require formal iron-overload assessment.

  5. 05

    Confirming

    Liver assessment

    LFTs, FibroScan (see /treatments/fibroscan-clinic/) and MRI-PDFF or T2* imaging (see /treatments/mri-liver-iron-quantification/) to stage fibrosis and quantify hepatic iron.

  6. 06

    Confirming

    Cardiac and endocrine workup

    Echocardiogram and cardiac MRI T2* for iron cardiomyopathy, HbA1c for diabetes, and pituitary, thyroid and gonadal hormones for endocrine involvement.

  7. 07

    Planning

    Specialist MDT and family screening

    Hepatology, haematology and clinical genetics coordinate care. First-degree relatives are offered cascade HFE testing.

Typical timeline: iron studies and HFE testing within weeks, MDT plan within a few months.

Symptoms

What haemochromatosis feels like.

Presentation is insidious, so the first clue is often a raised ferritin on a routine blood test. When symptoms appear, they cluster across several organ systems.

  • Fatigue and lethargy

    The most common early symptom, often long-standing before iron studies are requested.

  • Joint pain

    A characteristic arthropathy of the second and third metacarpophalangeal joints, wrists, hips and knees.

  • Skin bronzing

    Slate-grey or bronze pigmentation, especially on sun-exposed skin, from combined iron and melanin deposition.

  • Liver disease

    Abnormal LFTs, hepatomegaly and, if untreated, cirrhosis with a heightened risk of hepatocellular carcinoma.

  • Bronze diabetes

    Pancreatic iron deposition impairs insulin secretion, giving the classic combination of diabetes and pigmentation.

  • Hypogonadism and endocrine change

    Low libido, erectile dysfunction, menstrual disturbance, hypothyroidism and hypopituitarism from iron in endocrine tissues.

  • Cardiac symptoms

    Iron cardiomyopathy causes breathlessness, heart failure and arrhythmia (see /conditions/heart-failure/).

  • Asymptomatic screening pickup

    Many patients are identified through routine ferritin, incidental imaging or family cascade screening long before symptoms.

Treatment

How haemochromatosis is treated in the UK.

Venesection first for the great majority, chelation for selected transfusion-dependent patients, and organ-specific care through a hepatology-haematology-genetics MDT.

  • Therapeutic venesection

    The first-line treatment. Weekly removal of around 500 mL of blood until ferritin falls below 50 micrograms per litre, then maintenance every two to three months.

  • Maintenance monitoring

    Lifelong follow-up of ferritin, transferrin saturation, LFTs and end-organ function to keep iron in the target range.

  • Iron chelation

    Deferasirox, deferoxamine or deferiprone for selected patients who cannot tolerate venesection or who have transfusion-dependent iron overload. Specialist-commissioned.

  • Diet and lifestyle

    Avoid iron and vitamin C supplements, limit red meat, avoid raw shellfish and minimise alcohol, which acts synergistically with iron on the liver.

  • HCC surveillance

    Six-monthly ultrasound in patients with cirrhosis, as haemochromatosis meaningfully increases hepatocellular carcinoma risk (see /conditions/hepatocellular-carcinoma/).

  • Organ-specific care

    Diabetes, cardiac, hypogonadism (including testosterone replacement) and thyroid or pituitary support delivered through the relevant specialists.

  • Family cascade screening

    First-degree relatives are offered HFE genotyping and iron studies through clinical genetics to detect disease before end-organ damage.

  • Liver transplantation

    Considered in decompensated cirrhosis or hepatocellular carcinoma meeting UK criteria (see /treatments/liver-transplant-clinic/).

What this guide is based on

The sources behind every claim on this page.

UK national guidance and international specialist standards, current at the time of last review.

Key references

Guidelines and standards we relied on.

A quiet reminder

This guide is for information, not medical advice.

Your GP or specialist knows your history and iron studies, and can tell you which parts apply to you. If in doubt, get seen.

  • NICE Clinical Knowledge Summary. Haemochromatosis.

  • British Society for Haematology (BSH). Guidelines on the diagnosis and therapy of genetic haemochromatosis.

  • European Association for the Study of the Liver (EASL). Clinical practice guidelines on haemochromatosis.

  • Haemochromatosis UK. Patient information and support standards.

Red flags

When haemochromatosis needs urgent attention.

Most people do well on venesection. These are the situations that need faster, specialist input.

  • Decompensated liver disease

    Jaundice, ascites, variceal bleeding or encephalopathy require urgent hepatology review and transplant assessment.

  • Suspected hepatocellular carcinoma

    New liver lesion, rising alpha-fetoprotein or weight loss in a patient with cirrhosis needs prompt imaging and MDT review.

  • Cardiac symptoms

    Breathlessness, palpitations, syncope or ankle swelling raise the possibility of iron cardiomyopathy or arrhythmia and should be assessed urgently.

  • New diabetes with pigmentation

    The combination of new diabetes and skin bronzing warrants immediate iron studies to exclude advanced haemochromatosis.

  • Very high ferritin

    Ferritin above 1000 micrograms per litre with a raised transferrin saturation raises the risk of fibrosis and warrants specialist referral.

  • Severe joint disease

    Rapidly progressive arthropathy or joint destruction needs rheumatology input alongside iron control.

  • Pregnancy and family planning

    Genetic counselling is offered to affected patients and their partners to inform reproductive choices and cascade screening.

  • Chelation side effects

    Renal, hepatic, ocular or auditory changes on chelation therapy should be reported to the specialist team promptly.

  • Infections after venesection

    Rarely, iron overload increases susceptibility to certain infections. Fever and rigors should be assessed without delay.

Living with it

A lifelong condition, with predictable rhythms.

Four practical priorities that shape day to day life: keeping to venesection, sensible food and drink choices, cascade family testing and reporting new symptoms early.

A quiet reminder

Steady iron control does the heavy lifting.

Regular venesection over years is more powerful than any short-term intervention. Consistency is the treatment.

  1. 01 Routine

    Keep to your venesection schedule

    Regular blood removal is the single most effective thing you can do to prevent long-term complications.

  2. 02 Diet

    Sensible food and drink choices

    Avoid iron and vitamin C supplements, limit red meat and raw shellfish, and keep alcohol low, as it amplifies liver injury.

  3. 03 Family

    Talk to your relatives

    First-degree relatives can be offered HFE testing through their GP or clinical genetics, catching disease before damage occurs.

  4. 04 Escalate

    Report new symptoms early

    New breathlessness, jaundice, weight loss or worsening joint pain deserves an early conversation with your specialist team.

Frequently asked

Everything we get asked about haemochromatosis.

Quick answers on iron studies, HFE testing, venesection, diet and family screening.

  • What is haemochromatosis?

    Haemochromatosis is a condition of iron overload. In the hereditary form, faulty regulation of iron absorption (most often through the HFE gene) allows iron to accumulate in the liver, heart, pancreas, joints and endocrine organs. Secondary forms follow transfusion, chronic liver disease or excessive iron intake.

  • How common is hereditary haemochromatosis in the UK?

    It is one of the most common inherited disorders in people of Northern European ancestry, with up to 1 in 200 being C282Y homozygotes. However, only a proportion develop clinically significant iron overload, and the condition is widely under-diagnosed.

  • What tests confirm the diagnosis?

    Fasting transferrin saturation and ferritin are the first-line tests. If iron studies are raised, HFE genetic testing is performed, alongside liver assessment with FibroScan and MRI iron quantification, and cardiac and endocrine work-up where indicated.

  • How is haemochromatosis treated?

    Regular therapeutic venesection is the mainstay: usually weekly removal of around 500 mL of blood until ferritin falls below 50 micrograms per litre, followed by lifelong maintenance every two to three months. Iron chelation is reserved for selected patients.

  • Do I need to change my diet?

    Yes, but the changes are practical rather than extreme. Avoid iron and vitamin C supplements, limit red meat and raw shellfish, and keep alcohol low. A balanced diet with dairy and tea (which reduce iron absorption) can help.

  • Should my family be tested?

    First-degree relatives of a person with hereditary haemochromatosis should be offered iron studies and HFE genetic testing, typically through their GP or a clinical genetics service. Detecting the condition before end-organ damage is one of the strongest reasons for cascade screening.

Related content

Keep reading.

Pulse Healthcare concierge

Send us your enquiry

A concierge service for UK private healthcare. We match you with the best vetted clinics and consultants in our network - they then contact you directly.

So we can match you to the right clinician close to you.

We reply to every enquiry within 24 hours (Mon–Fri). Confidential - your details are never shared outside our vetted consultant network.