How haemochromatosis is inherited
Genes come in pairs. Children inherit one of each pair from each parent. Haemochromatosis is a recessive genetic condition. That means that you need to inherit the haemochromatosis gene variant from both your parents in order to be at risk of developing it.
If only one of your parents has a haemochromatosis gene variant, there is no risk of having haemochromatosis yourself. But you could inherit the gene variant and pass it on to your children. This is called being a carrier. There is more about this on the page how is haemochromatosis passed on in families?
Having a test – or not
There is a test that can show whether you’ve inherited haemochromatosis genes. This is a blood test but it isn’t the same as the test that measures your iron. It actually looks for the specific gene variants that cause haemochromatosis. Because haemochromatosis only affects adults, the genetic test is not usually offered to anyone under 18. Juvenile haemochromatosis is a different condition and affects different gene variants.
People have different views about being tested for any potential illness. Some people think straightaway that they would like to know for sure whether they have an illness or a gene that causes it. Others know straightaway that they don’t.
Neither of these views are right or wrong. It’s a personal decision and you’re entitled to have your own view. Most people are somewhere between the two and need time to weigh up the arguments for and against.
Inheriting two copies of a haemochromatosis gene variant doesn’t mean that you will definitely develop it. Some people with haemochromatosis genes never develop any symptoms. They may have signs of the condition on blood tests but their haemochromatosis never develops any further. This is explained in our section on the risk of iron overload in haemochromatosis.
Pros and cons
There are genetic counselling services available on the NHS for anyone who is considering having a test for a genetic condition that runs in their family. If you are struggling with your decision, speak to your doctor. They can refer you.
The upside to having a test is that you will know for sure whether you have any risk of developing haemochromatosis. If you don’t have a test, you may be worrying about it unnecessarily.
Some people find the prospect of having any medical tests causes them a lot of anxiety. Just the idea of having any type of blood test may make you anxious. Only you can know what’s best for you.
These days, treatment for haemochromatosis means that you are much less likely to have any serious effects from it. If you have haemochromatosis but don’t know about it, you may only find out because you develop symptoms that could have been avoided.
Some people worry about a possible impact of a genetic test on their insurance. The UK insurance industry has a code of conduct on this. Your insurance company is not allowed to ask you whether you have had any genetic tests for a medical condition. The link above will take you to their consumer guide if you are concerned.
What would happen if I’m found to have inherited haemochromatosis gene variants?
You will have blood tests from time to time, to see if you are developing iron overload. If you aren’t, that’ll be all you need.
If you do show signs of iron overload on your blood tests, your doctor may suggest more frequent blood tests and sometimes other tests such as scans. Your doctor will monitor you for symptoms so that any problems caused by iron overload are picked up as soon as possible. Depending on your test results, your doctor will also discuss with you whether you need to start treatment.
Blood tests for haemochromatosis
You will need to have blood tests to check your iron levels if
- your genetic blood test shows that you have inherited a gene variant for haemochromatosis from both your parents
- you have signs of iron overload and your doctor suspects haemochromatosis
With haemochromatosis, your body is not able to process iron as it usually does. Iron can build up and cause health problems in the future. Monitoring your iron levels can help your doctor to make sure this doesn’t happen.
There are two main blood tests that you will have:
- Transferrin saturation
- Serum ferritin
Transferrin saturation (TSat) measures the amount of iron your body is absorbing. Transferrin is a hormone that carries iron through the blood. We normally absorb iron from our diet and transferrin carries it to the liver where it is stored.
The normal TSat level is around 30%. If your TSAT level is higher than 45%, you may have too much iron in your body. TSat is a very reliable test. But levels can go up and down a lot through the day, so your doctor may ask you to have them checked at different times. They may also ask you to have the blood test before you eat anything that day.
Having raised TSat doesn’t mean that you have iron overload. It takes years for the iron to build up to a level that starts to cause problems.
Serum ferritin measurement shows how much iron is stored in your body. Doctors measure this in micrograms per litre. If the level is higher than 300 in men and 200 in women, the amount of iron stored in your liver is above normal.
Ferritin can go up if you have other causes of liver damage, such as inflammation, fatty liver or drinking too much alcohol. If this is the case, your TSat level will be normal. It’s only if both ferritin and TSat are raised that you have haemochromatosis.
Your doctor is also likely to do a set of liver blood tests. This provides a general check of liver health. You may be more likely to develop symptoms if there are other problems with your liver. It also gives your doctor a baseline for the future, because iron overload mostly affects the liver.
Understanding your results
If your results are normal
Some people with haemochromatosis genes have normal blood test results. This is more likely when you are younger, but you may have normal results throughout your life. Because you have haemochromatosis genes, you could develop high iron levels in the future. So your doctor may ask you to have these blood tests repeated every few years.
Depending on your individual results and circumstances, you may have repeat blood tests regularly, for example once a year. As long as these results are normal, this is all you’ll need to have done.
If your results are raised
Some people have raised blood test results but no other sign of iron overload. It’s quite common for people to have raised blood test results, but never develop any clinical signs of haemochromatosis. Depending on your TSat and ferritin blood test results, your doctor will talk through with you whether or not you need to start treatment.
Deciding if and when to start treatment is very individual. If you have raised TSat but ferritin is not raised, it means you are absorbing more iron than is normal but don’t yet have iron overload. Some people want to start treatment at this point. Others prefer to wait until their iron level needs to be reduced. Your doctor will talk through the implications of your individual test results and it’s a decision you make together.
Your doctor will ask you to have further tests to make sure you don’t have iron levels that could cause symptoms or damage to body organs if not treated. This may also be to check whether there could be other causes, such as fatty liver or damage from alcohol.
Further tests for haemochromatosis
The blood tests you have had give your doctor a general idea of your iron levels. But there are other blood tests that give a more accurate picture. You may hear your doctor talk about tests called FIB-4 or ELF, which stands for Enhanced Liver Fibrosis test
Everyone who is diagnosed with haemochromatosis needs to have a liver assessment. Storing too much iron can damage the liver tissue. This leads to scars in your liver – doctors call this fibrosis. As well as FIB-4 or ELF, you may have a special ultrasound called transient elastography (a FibroScan) or an MRI of your liver. Both of these are painless and take about half an hour. You have them as an outpatient.
Find out more about liver scans
There are other tests that you may need should you develop haemochromatosis in the future. Generally, you don’t need these when you are diagnosed unless you already have symptoms of iron overload. There is more about these tests in the page on haemochromatosis complications and related conditions.
Published: September 2025
Review date: September 2028
Clinical reviewers: Jeremy Shearman, Consultant Hepatologist and Gastroenterologist, South Warwickshire University Foundation Trust. Sister Kim Hicks, Medical Day Unit Haemochromatosis Nurse, Royal Cornwall Hospital, Treliske. Dr Indra van Mourik, Consultant Paediatric Hepatologist (retired).
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