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 & 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.

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), it is not recommended to test family members. This is because people with this variant of the condition are much less likely to load iron, and so the risks of iron overload in the wider family are also greatly reduced.