Care pathway for haemochromatosis
This page is for gudance on a care pathway for genetic haemochromatosis and signposting to medical services.
Initial Diagnosis
The condition is diagnosed through blood tests, which can be arranged by your GP. The tests come in two stages.
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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.
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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%
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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%
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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.
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There are three common variations of genetic haemochromatosis :
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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.
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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.
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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.
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There may also be other genetic mutations which cause iron overload. For now we do not fully understand them and new research is needed.
BUDDY UP!
Newly diagnosed or caring for someone affected? Chat with a Buddy
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Our Buddy Team are trained volunteers who provide 1-2-1 support around new diagnosis and family support
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Our Advanced Nurse Practitioner appointments can cover all aspects of your diagnosis, care, treatment and genetics .