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What is haemochromatosis?

 What is haemochromatosis?

An inherited disorder, haemochromatosis is when there is an excess build up of iron - or iron overload - in the blood. 

There are several good reasons why the human body needs iron – most importantly, it helps with the production of haemoglobin (the protein found in red blood cells that carry oxygen around the body). If you’re running low on iron, you risk becoming anaemic.  However, when people have far too much iron in their bodies it's also a problem. In the case of people with haemochromatosis, it can cause a number of symptoms, including fatigue, weight loss and joint pain. 

How common is haemochromatosis in the UK?

An inherited disorder, haemochromatosis is more common than you think. According to the charity Haemochromatosis UK, one in 113 people in Scotland and Northern Ireland is affected by it, along with one in 150 people in England and in Wales (i). Haemochromatosis, says the NHS, most often affects people of white northern European background and is common in countries where many people have a Celtic background – for instance, Ireland, Scotland and Wales (ii). 

What are the haemochromatosis symptoms?

Haemochromatosis can cause a number of symptoms, which usually – but not always – start to develop between the ages of 30 and 60 (ii). Men tend to develop symptoms earlier than women, who often don’t experience any signs of haemochromatosis until after menopause (iii). The early symptoms tend to be quite vague – for instance, you may feel tired or weak a lot of the time, your joints may ache or you may lose weight without trying. Meanwhile men with the early symptoms of haemochromatosis sometimes experience erectile dysfunction, while women can often have irregular or absent periods.

Late stage symptoms of Haemochromatosis

If you’re not diagnosed with and treated for haemochromotosis early on, the condition can progress, with ever-increasing toxic levels of iron stored in your body’s tissues and organs – particularly the skin, heart, liver, pancreas, bone marrow and joints – causing more specific symptoms, including:

  • Skin darkening (this can look as if you have a permanent tan)

  • Stomach pain and swelling 

  • Jaundice (yellowing of the skin and eyes)

  • Worsening joint pain and swelling, particularly in the fingers (pain in the knuckle and first joint of the first two fingers is a very specific symptom and highly suggestive of haemochromatosis)

  • Low libido

  • Constant thirst and need to urinate

  • Chest pain

  • Stomach pain

  • Breathing difficulties

  • Irregular heartbeat

  • Loss of body hair

  • Memory problems

  • Depression

  • Irritability


Haemochromatosis and bowel problems

Some people with haemochromatosis also experience digestive problems that may be caused by excess iron being absorbed in the bowel, including:

Meanwhile there’s evidence to suggect haemochromatosis may cause colitis and other colon-related problems in animals – though this doesn’t mean that there’s a similar link in humans, since the results of animal studies often fail to be replicated in human test subjects. 

What causes haemochromatosis?

People with haemochromatosis have a faulty gene that makes their system absorb too much iron from their diet. Normally we only absorb as much iron from our food as we need. But if you have haemochromatosis, it means you can’t control your iron level, and you keep absorbing it and storing it, even when you don’t need it. Over time, this causes an excessive and damaging iron build-up in your organs and tissues.

How is haemochromatosis inherited?

In the majority of cases the faulty gene responsible for haemochromatosis is called HFE. If you have haemochromatosis, it means you’ve inherited two mutated copies of the HFE gene – one from both parents. If you’ve inherited just one mutated HFE gene from one parent, you’re known as a carrier – that is, you won’t develop haemochromatosis yourself, but your children may develop it if your partner is also a carrier. According to the NHS it’s quite common for people of Celtic origin to be carriers of the faulty HFE gene. If you and your partner are both carriers, here’s how it could affect any children you may have (iv):

  • Their chances of developing haemochromatosis will be one in four (25 percent) 

  • They’ll have a one in two chance of being a carrier

  • They’ll also have a one in four chance of not having haemochromatosis and not being a carrier themselves (that is, they will have two normal copies of the HFE gene).

Even if your child inherits two faulty HFE genes it doesn’t mean they will definitely develop haemochromatosis – in fact only a small number of people with two faulty HFE genes go on to develop it, though nobody really knows why that’s the case. 

Types of Haemochromatosis

There are also a few other types of haemochromatosis, though HFE haemochromatosis is considered the most common. These include a rare form of inherited haemochromatosis –this causes classic HFE haemochromatosis symptoms but without any mutations in the gene itself. Other types include:

  • Juvenile haemochromotosis: this starts earlier in life than the main type, with symptoms often developing during childhood.

  • African iron overload: this gets its name from the pratice of drinking traditional African beer that contains dissolved iron from the metal drums it’s brewed in, though some experts believe it’s caused by a genetic disposition for absorbing too much iron from the diet (v). This type of haemochromatosis is common in rural areas of central and southern Africa, with up to 10 percent of the population in these areas thought to be affected (v).

  • Neonatal haemochromatosis: this affects foetuses and newborn babies and is thought to be very rare (experts think fewer than one in a million pregnancies results in neonatal haemochromatosis, though nobody knows exactly how many babies develop it (vi)). Neonatal haemochromatosis is when there are abnormal amounts of iron accumulating in the liver, causing liver damage that can be potentially fatal.


What are the complications of Haemochromatosis?

If you have undiagnosed and untreated haemochromatosis, the longer it progresses the more likely it is to cause one of the following problems:

  • Liver disease (according to the NHS many people with haemochromatosis will have some degree of liver damage (vii)). This includes scarring of the liver – or cirrhosis – which can also increase your risk of developing cancer

  • Heart disease: possible heart problems caused by haemochromatosis include cardiomyopathy (when the heart muscles become weak), heart failure and abnormal heart rhythms 

  • Diabetes (this can happen when excessive iron levels damage the pancreas) 

  • Arthritis (high iron levels can damage your joints) 

  • Fertility problems 

  • Pituitary or adrenal gland problems (Addison’s disease, for instance) 


How is haemochromatosis diagnosed?

Since most haemochromatosis symptoms are also caused by other conditions, getting a diagnosis isn’t always straightforward. Most of the later symptoms are also often caused by the complications haemochromatosis can cause if it isn’t treated early on.
If you have a close family member – a parent or a sibling – who’s been diagnosed with haemochromatosis, it’s a good idea to speak to your GP about getting tested for the faulty HFE gene because you may be at risk of developing the condition too. According to the British Liver Trust, it’s particularly important to get tested if you have a brother or sister with haemochromatosis, since siblings are more likely to carry both abnormal HFE genes. Your doctor can explain about gene testing, including its possible benefits and drawbacks.
Also speak to your GP if you have persistent symptoms that could be caused by haemochromatosis. They may, for instance, suggest you have a simple blood test to check your iron levels. Then if your iron is too high, you may be advised to have gene testing. It is, however, worth remembering that there are several other things that could make your iron levels become too high, including:

  • Long-term dialysis (treatment for kidney disease)

  • Long-term liver disease

  • Certain other inherited conditions (though these are usually rare) 

  • Having frequent blood transfusions (if you have a condition such as sickle cell disease, for instance)

  • Taking extremely high levels of iron supplements or injections


What are haemochromatosis treatments?

There is no cure for haemochromatosis as you cannot change your genes, but there are treatments that can help keep your iron levels under control. The most widely used and most effective treatment is called phlebotomy, which is also known as venesection therapy.
Phlebotomy involves taking a small amount of blood (usually around 500ml). The procedure is similar to that of giving blood. This removes some red blood cells that contain iron, which helps to reduce your overall iron level. However, the process is a gradual one, and at first you will usually need frequent phlebotomy – typically one treatment a week for up to a year or more. Once the amount of iron in your blood is at a normal level, you’ll then move on to maintenance phlebotomy, which usually means having the treatment around two to four times a year for the rest of your life.
However, phlebotomy cannot actually treat the complications of haemochromatosis. If you develop complications such as liver disease or diabetes, you will also need specific treatments for those conditions. This is why diagnosing haemochromatosis is so important, as it reduces your risk of developing complications in the first place.

Additional haemochromotosis treatments

If you’re not a suitable candidate for phlebotomy – if you have thin, fragile veins, for instance, or you have a bad case of blood needle injury phobia – your specialist may recommend a treatment called chelation therapy. This involves taking one of several medicines that bind to excess iron in your blood and allow it to be removed from your body. These medicines aren’t officially licensed to treat haemochromatosis, but your specialist may recommend them if they feel you may benefit from taking medication rather than having phlebotomy treatments.
Haemochromatosis UK has a useful guide to overcoming blood and needle phobias and medical anxiety that you can view online here

Can you eat iron rich foods with haemochromatosis?

If you have haemochromatosis, it may sound sensible to avoid foods that contain iron. But this isn’t usually advised, and like everyone else you should aim to have a healthy, balanced diet (including foods that contain iron). This is because foods that contain iron also supply your body with other nutrients, and if you stop eating them you may find yourself developing nutritional deficiencies.
It’s a good idea to avoid eating one or two foods, however, including foods that have been fortified with extra iron (some breakfast cereals, for instance - though Haemochromatosis UK says the iron in fortified breakfast cereal is poorly absorbed so you shouldn’t worry if you eat the occasional bowl (viii)). The NHS also recommends steering clear of raw oysters, mussels and clams, as they may contain bacteria that can cause serious infections in people with high iron levels (ix).

Limiting iron absorption through diet

You may want to make sure you’re eating a regular selection of foods that are classed as iron inhibitors. These foods contain chemicals that interfere with your body’s absorption of iron from other foods when you eat them together in the same meal, with examples including;

  • Tea, coffee and cocoa (chocolate is an iron inhibitor too) 

  • Foods high in calcium (milk, yoghurt, cheese) 

  • Lentils

  • Wholegrain cereals

  • Eggs

  • Soya foods (e.g., soya milk, tofu, edamame beans)

  • Spinach

  • Kale

  • Strawberries 

  • Rhubarb

  • Almonds

  • Walnuts

  • Sesame seeds

  • Olives

  • Broccoli

  • Onions

  • Apples

  • Beetroot

  • Parsley

  • Berries



Haemochromatosis and alcohol

If you have haemochromatosis, it’s advised not to drink alcohol with meals, as alcohol makes it easier for your body to absorb iron from food. Cutting down in general is a good idea too, since too much alcohol can damage your liver and your heart – two of the main organs that can be affected by iron overload. Try to stick to the recommended alcohol intake, which is 14 units of alcohol a week spread evenly over at least three or four days if you regularly drink that much. However, if you have liver disease – caused by haemochromatosis or anything else – you should avoid alcohol altogether.
Find out more about cutting back on alcohol in our guide.

Lifestyle changes for haemochromatosis

Smokers with haemochromatosis are encouraged to give up since smoking can also damage your heart and your liver (some of the main organs affected by excess iron. For tips on quitting, please read our stop smoking guide.
You should also avoid taking iron supplements (including multivitamins that contain iron) as well as high-strength vitamin C supplements, since vitamin C is an iron absorption enhancer (that is, it helps your body absorb iron).

People with haemochromatosis are also encouraged to stay active, as exercise can help with joint pain and boost a low mood. Aim for 150 minutes of moderate activity each week, but start off gradually and build up to this goal if you haven’t been very active lately(always speak to your GP before starting a new exercise plan if you have a medical condition).  


Nutritional support 

A multivitamin with broad spectrum coverage is a simple and effective way to support a balanced diet.  However, most multivitamin formulas contain iron.  An iron-free multivitamin formula would be the perfect choice for those who cannot tolerate additional iron.

How serious is haemochromatosis?

Having haemochromatosis can make you feel well below par and lead to potentially serious complications if you don’t get treated early on. Being aware of your family’s medical history can help you get the treatment you need in good time, if haemochromatosis runs in your family. Also having some knowledge of the symptoms could be useful, even if those early symptoms tend to be rather vague and associated with lots of other health issues too. Meanwhile, if you want help and advice for another health condition, our pharmacy health library has loads of information on a wide range of problems that can affect your health and wellbeing.



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Disclaimer: The information presented by Nature's Best is for informational purposes only. It is based on scientific studies (human, animal, or in vitro), clinical experience, or traditional usage as cited in each article. The results reported may not necessarily occur in all individuals. Self-treatment is not recommended for life-threatening conditions that require medical treatment under a doctor's care. For many of the conditions discussed, treatment with prescription or over the counter medication is also available. Consult your doctor, practitioner, and/or pharmacist for any health problem and before using any supplements or before making any changes in prescribed medications.

Our Author - Christine Morgan


Christine Morgan has been a freelance health and wellbeing journalist for almost 20 years, having written for numerous publications including the Daily Mirror, S Magazine, Top Sante, Healthy, Woman & Home, Zest, Allergy, Healthy Times and Pregnancy & Birth; she has also edited several titles such as Women’ Health, Shine’s Real Health & Beauty and All About Health.

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