Genetic haemochromatosis is an inheritable condition; it can be shared by family members. In the UK, as many as 1 in 150 people (England & Wales) or 1 in 113 people (Scotland) or 1 in ~10 (Northern Ireland) have the condition, but most are unaware that they do. The condition is particularly prevalent in people of northern European ancestry.

People with genetic haemochromatosis find it difficult to process iron in their bodies. Over time (usually several years or decades), the amount of iron builds up. This is known as iron overload, which can lead to chronic fatigue, painful joints and issues like diabetes, liver and heart disease. Sometimes people don’t have any symptoms at all.

With treatment, many people live full and active lives with genetic haemochromatosis.

Initial Diagnosis

The condition is diagnosed through blood tests, which can be arranged by your GP. The tests come in two stages.

Stage One – initial blood tests

The first stage is to do a simple blood test for serum ferritin, transferrin-saturation, full blood count and liver function tests. This will give an indication if you have too much iron in your body.

If your initial blood test results are outside normal range, you should then be referred for a subsequent genetic test.

The normal ranges for these test results vary for men and women.

• Men should be referred for a genetic test if their full blood count (FBC) is normal and serum ferritin (known as SF) is over 300μg/l or transferrin saturation (known as random TSAT) is over 50%
• Women should be referred for a genetic test if their full blood count (FBC) is normal and Serum ferritin (known as SF) is over 200μg/l or transferrin saturation (known as random TSAT) is over 40%

Stage Two – genetic test

If your GP discovers that your initial blood tests are outside the normal range, they should arrange a second, genetic test. This will check for the common gene variants of genetic haemochromatosis (known as c282y and H63d). The genetic test will show if you have genetic haemochromatosis or not.

For a genetic test you will be asked to give a small blood sample. You will receive the results of this test within 4-6 weeks.  If the test confirms that you have genetic haemochromatosis, either your GP or a genetic counsellor will contact you to explain the results.

There are three common variations of genetic haemochromatosis :

• C282y/c282y (also known as “c282y homozygous”). This is the most common variant of the condition in the UK, affecting over 9 in every 10 people diagnosed. People with this variation tend to load iron much more quickly compared to other people with genetic haemochromatosis.

• C282y/H63d (also known as “compound heterozygous”). This is a less common variant of the condition, affecting up to 5 in every 100 people diagnosed. People who are compound heterozygous tend to load iron less rapidly than other people with genetic haemochromatosis.

• H63d/H63d (also known as “H63d or non-c282y homozygous”). This is a less common variant of the condition, affecting up to 5 in every 100 people diagnosed. People who are H63d homozygous tend to load iron less rapidly than other people with genetic haemochromatosis.

There may also be other genetic mutations which cause iron overload. For now we do not fully understand them and new research is needed.

Following a diagnosis of genetic haemochromatosis

If a genetic test confirms a diagnosis of genetic haemochromatosis, your doctor will organise a range of additional tests. These will vary from person to person, depending on the level of iron overload in your body.

Too much iron in the body over a long period can cause damage to many parts of the body. Excess iron can be extremely toxic.  It can affect many parts of the body. Your doctor will check your liver particularly as it is most often affected.

FerriScan

This is a specialized, non-invasive MRI-based diagnostic tool used to measure liver iron concentration (LIC). It provides a quantitative assessment of the amount of iron deposited in the liver. This scan is particularly useful for diagnosing and monitoring conditions associated with iron overload, such as haemochromatosis, thalassemia, and other transfusion-dependent iron overload. Here are some key points about FerriScan:

1. Procedure:

• The patient undergoes a magnetic resonance imaging (MRI) scan, during which specific sequences are used to measure the magnetic properties of iron in the liver tissue.

• No contrast agents are required, making it safe for patients with allergies or kidney issues.

2. Benefits:

• Accuracy: Provides precise quantification of liver iron concentration.

• Non-invasive: Unlike liver biopsy, FerriScan does not require tissue sampling.

• Repeatable: Can be used regularly to monitor changes in liver iron levels over time without risk to the patient.

3. Clinical Use:

• Diagnosis: Helps in diagnosing conditions that cause iron overload.

• Monitoring: Tracks the effectiveness of treatments aimed at reducing iron levels, such as phlebotomy or chelation therapy.

LiverMultiScan

This is another advanced MRI-based diagnostic tool used to assess the health of liver tissue. It provides detailed information about liver tissue characteristics, including inflammation, fibrosis, and fat content. This tool is used in the evaluation of a variety of liver conditions, including non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), and chronic hepatitis. Here are some key points about LiverMultiScan:

Procedure:

• The patient undergoes an MRI scan with specific imaging protocols designed to capture detailed images of liver tissue.

• Different sequences are used to assess various aspects of liver health, such as T1 and T2* mapping.

Benefits:

• Comprehensive Assessment: Provides a multifaceted evaluation of liver health, including quantification of fat, iron, inflammation, and fibrosis.

• Non-invasive: Similar to FerriScan, it avoids the need for invasive procedures like liver biopsy.

• Early Detection: Can identify liver disease at early stages, potentially before significant symptoms appear.

Clinical Use:

• Diagnosis: Helps in diagnosing a wide range of liver conditions.

• Monitoring: Assesses the progression of liver disease and the effectiveness of therapeutic interventions.

• Prognosis: Provides information that can help predict the likely course of liver disease.

Both FerriScan and LiverMultiScan offer non-invasive, accurate, and repeatable ways to assess liver health, aiding in the diagnosis, monitoring, and management of liver conditions.

Here is a video explaining the use of FerriScan click here

We have compiled a list of UK providers of FerriScan:

Site	Address
Addenbrookes Hospital	Addenbrookes Hospital, Hills Road, Cambridge, CB2 0QQ, United Kingdom
Alder Hey Children's NHS Foundation Trust	E Prescot Rd, Liverpool, L14 5AB, United Kingdom
Barking, Havering and Redbridge University Hospitals	4 Lyon Rd, Romford, RM1 2BA, United Kingdom
Barts Health	The Royal Hospital, Whitechapel Road, London, E1 1BB, United Kingdom
Birmingham Children's Hospital	Steelhouse Ln, Queensway, Birmingham, B4 6NH, United Kingdom
Great Ormond Street Hospital, NHS Trust	Great Ormond St, London, WC1N 3JH, United Kingdom
Guy's and St Thomas' NHS FT	St Thomas' Hospital, Westminster Bridge Rd., London SE1 7EH, United Kingdom
Hammersmith Hospital - Imperial College Healthcare	72 Du Cane Rd., London, W12 0HS, United Kingdom
Homerton University Hospital	Homerton University Hospital
Kings College Hospital MRI	Denmark Hill, London, SE5 9RS, United Kingdom
Leeds Children's Hospital	Leeds Children's Hospital
Leeds Teaching Hospitals NHS Trust	St James University Hospital, Beckett St, Leeds, LS9 7TF, United Kingdom
London North West Healthcare, Central Middlesex Hospital	Acton Ln, London, NW10 7NS, United Kingdom
Luton and Dunstable Hospital	NHS Foundation Trust, The L&D Hospital, Lewsey Rd., Luton, LU4 0DZ, United Kingdom
Manchester Children's Hospital	Oxford Rd, Manchester, M13 9WL, United Kingdom
Newham University Hospital	Glen Rd, London, E13 8SL, United Kingdom
Nottingham University Hospitals	Derby Rd, Lenton, Nottingham, NG7 2UH, United Kingdom
One Welbeck Imaging and Diagnostics	1 Welbeck St, London, W1G 0AR, United Kingdom
Oxford University Hospital NHS FT	Radiology, Churchill Hospital Old Rd, Headington, Oxford, UK OX37LE
Royal Belfast Hospital	274 Grosvenor Rd., Belfast, BT12 6BA, United Kingdom
Royal Hospital for Children	1345 Govan Rd., Glasgow, G51 4TF, United Kingdom
Sandwell and West Birmingham Hospitals NHS Trust	Treatment Centre, City Hospital, Dudley Road, Birmingham, B18 7QH, United Kingdom
Sheffield Children's NHS Foundation Trust	Clarkson St. Broomhall, Sheffield S10 2TH, United Kingdom
Sheffield Teaching Hospitals NHS Foundation Trust	Royal Hallamshire Hospital, Broomhill, Glossop Rd, Sheffield S10 2JF, United Kingdom
South Tyneside and Sunderland NHS Foundation Trust	Harton Ln, South Shields NE34 0PL, United Kingdom
St Mary's Hospital Imperial College Healthcare	St Mary's Hospital, Prade St, London W2 1NY, United Kingdom
Sunderland Royal Hospital	Kayll Rd, Sunderland SR4 7TP, United Kingdom
The Harley Street Clinic	Harley street clinic, 35 Weymouth Street The, London W1G 8BJ, United Kingdom
University College London (UCL)	The Roger Williams Building, 69-75 Chenies Mews, London WC1E 6HX, United Kingdom
University Hospital Southampton	Tremona Rd, Southampton SO16 6YD, United Kingdom
University Hospitals of Derby and Burton NHS Foundation Trust	Uttoxeter Rd, Derby DE22 3NE, United Kingdom
University Hospitals of Leicester NHS Trust	Groby Rd, Leicester LE3 9QP, United Kingdom
Velindre NHS Trust	Unit 2 Charnwood Court Heol Billingsley, Parc, Nantgarw, Cardiff CF15 7QZ, United Kingdom
Whittington Hospital	Magdala Ave, London N19 5NF, United Kingdom

As well as a list of UK providers of Liver Multi Scan test: 

Site	Address
Nottingham City Hospital	Hucknall Road, Nottingham, NG5 1PB, United Kingdom
Southampton General Hospital	Tremona Rd, Southampton, SO16 6YD
Basingstoke and North Hampshire Hospital	Aldermaston Rd, Basingstoke, Hampshire, RG24 9NA, United Kingdom
Preventicum	38 Cursitor St, Chancery Ln, London, WC2A 1EN, United Kingdom
Lumen Harley Street	17 Harley Street, London, W1G 9QH, United Kingdom
Mayo Clinic Healthcare	15 Portland Place, Marylebone, London, W1B 1PT, United Kingdom
Nottingham City Hospital	Hucknall Road, Nottingham, NG5 1PB, United Kingdom

    

Fibroscan tests

You should be offered a Fibroscan test, which is a type of ultrasound. It assesses the wobbliness (or elasticity) of the liver. The test takes only a few minutes and causes little or no discomfort. Sometimes, this will be followed by a liver biopsy to assess the severity of liver scarring (also known as cirrhosis).

People with serum ferritin of over 1000 μg/l should be referred to a hepatologist, to check for excess liver scarring or damage caused by high iron levels.

If cirrhosis is detected, you will be referred to a hepatologist to check the liver with ultrasound every 6 months along with a blood test (known as AFP) which can identify any early liver cancer, which is potentially curable if caught early.

You may also be offered – based on your particular circumstances – the following tests :

DEXA tests

Your doctor may request a DEXA scan, which is a type of high-resolution X-ray. This is used to check for osteoporosis and bone wear, which can occur as a result of iron overload. A DEXA scan is totally painless and takes only a few minutes.

Cardiology/ECG tests

Your doctor may request cardiology screening, which may include ECG and cardio ultrasound tests. These tests are painless and take only a few minutes.

Joint tests

Your doctor may refer you for specialist rheumatology assessment, particularly if you are experiencing acute joint pain or have arthropathy (joint inflammation).

Endocrine tests

Your doctor may refer you to an endocrinologist, particularly if your blood tests show early signs of diabetes or Addison’s Disease.

Initial Treatment

For most people, treatment for genetic haemochromatosis is simple and effective; it’s a form of regular blood donation known as “venesection”.

Initially, your doctor will ask you to attend hospital or a clinic weekly or fortnightly to have up to 1 unit (450 ml) of blood drawn. This has the effect of stimulating the body into producing more blood, which draws excess iron out of the organs and soft tissues. Then – a week or two later - another unit of blood is drawn, and the process repeats.

You’ll need to have a venesection regularly until your serum ferritin (SF) is between 20-30 μg/l and your transferrin saturation (TSAT) is below 50%. Depending upon your iron levels at initial diagnosis, it may take several months to several years of venesection to reduce your iron levels to normal.

Venesection isn't always an option for people (for example, if venous access is consistently troublesome); for a small number, alternative therapies including chelation therapy may be used instead (or interchangeably). These approaches use drugs administered orally or by injection which bind to excess iron to enable it to be passed out of the body.  Different drugs are available, these include Deferoxamine, Deferasirox and Deferiprone.

Ongoing (or "maintenance") Treatment

Following a period of regular venesection, you will reach “maintenance” once your serum ferritin (SF) is below 100 μg/l and transferrin saturation (TSAT) is below 50%.

You will need to continue to have venesection periodically to maintain your iron levels at normal levels, ideally where serum ferritin (SF) is below 50 μg/l and transferrin saturation (TSAT) is below 50%. The frequency of venesection varies from person to person and can range from every few weeks to every few months.

Once in maintenance, many people can go on to be regular blood donors, helping others. The NHS Blood & Transplant service accept donors with genetic haemochromatosis for venesection/donation from 6 weekly intervals upwards.

You should also be offered a periodic appointment with your consultant (either 6 monthly or 12 monthly) to discuss your treatment and to arrange a liver ultrasound and/or Fibroscan.

Family screening

Genetic haemochromatosis is inherited, so it’s important that families consider genetic screening, based on their circumstances.

If you have been diagnosed with genetic haemochromatosis c282y/c282y (known as c282y homozygote), doctors recommend that all your siblings, parents and adult children get tested for the condition.

If you have been diagnosed with genetic haemochromatosis c282y/h63d (known as compound heterozygote), we also recommend that family members should be tested.