Haemochromatosis

What is Haemochromatosis?

A medical condition caused by an overload of iron in your body. There are several forms of haemochromatosis; the most common form is hereditary or genetic haemochromatosis which is the inheritance of a faulty or abnormal gene that is responsible for an increase in the amount of iron entering the body.

What is Iron and what does it do?

Iron is a trace mineral and is essential to health. As a nutrient iron is important in your diet as it helps make haemoglobin which is a vital protein in red blood cells. Haemoglobin gives your red blood cells their colour and also helps them carry oxygen around your body. Iron enters the body with food and is absorbed by your small intestine following digestion. An overload of iron is caused by an increase in absorption of iron from your food. Two thirds of iron absorbed is incorporated into haemoglobin itself, the rest is stored in your liver. Smaller amounts of iron are distributed to other organs and body tissue.

Will I experience any symptoms of excess iron?

Even though haemochromatosis is inherited a build-up of iron in your body happens slowly and symptoms usually don’t appear until a person is 30 or 40 years old. In women it is closer to 50 years old. For some people the build-up of iron is quite small and does not cause any clinical symptoms. Symptoms that may occur are tiredness, weakness in your limbs, pain in your joints particularly your knuckles, abdominal pain, loss of libido (sex drive), impotence or early menopause, evidence of liver damage from scarring resulting in cirrhosis, cardiomyopathy (disease of the heart muscle), type 2 diabetes mellitus or a yellowing/bronzing of the skin.

How is Haemochromatosis diagnosed?

Haemochromatosis is usually diagnosed from your blood results and after clinical assessment which includes obtaining a full liver screen (blood tests and abdominal ultra sound). Abnormal levels of iron are often the only indicator of haemochromatosis, so the most important investigation for detecting iron levels in your blood are the transferrin saturation and ferritin levels.

Transferrin saturation is a protein that binds the iron in your blood stream and carries it around your body. This test measures the level of iron in your blood against the blood iron binding protein (transferrin) to bind it.

Ferritin is the protein that stores iron in the tissues. Small amounts of ferritin are also found in your blood and as your iron amounts in your body increase so do the levels of ferritin in your blood.

Genetic screening is also used to determine whether you have the HFE gene mutation. The genetic testing is positive in over 90% of people with iron overload. Genetic screening has reduced the need of a liver biopsy to diagnose haemochromatosis however to assess the severity of liver scarring a fibro scan or liver biopsy may still be required but will be discussed with you prior to the investigation.

Is there any treatment?

Treatment of haemochromatosis should always be in accordance with local/ national guidelines.

Treatment is aimed at removing iron from your body, as your body has no natural method of getting rid of extra iron this is done by regular bleeding known as phlebotomy. It is usual for a unit of blood (450mls) to be removed. This contains approximately 220mg of iron.

Below is a table of average visits you can expect depending on your iron count, and you may require phlebotomy for the rest of your life.

Aim of Phlebotomy

All patients requiring treatment will attend the Procedural Investigation Unit for phlebotomy. At this appointment information about your stay will be provided by a member of the Unit staff.

What are the benefits of the treatment?

Symptoms such as fatigue, tiredness and abdominal pain should lessen after phlebotomy, an enlarged liver may reduce in size but if you have confirmed cirrhosis then improvement is unlikely, but you will be monitored every 6 months when blood tests and abdominal ultrasound scan will be requested. Having liver cirrhosis could put you at an increased chance (less than 5%) of developing liver cancer which would mean you would be assessed regarding suitability of having a liver transplant, please seek advice regarding this if you are concerned when you attend either the unit for phlebotomy or at your 6 monthly review meeting.

Alternatively, you could contact a member of the hepatology nursing team daily Mon-Fri 8:30am to 16:30pm on telephone 01914453935 for any advice or information.

Looking after Yourself

We may suggest that you regulate the amount of iron you have in your diet, we do not suggest removing iron from your diet altogether as foods containing iron will also contain other nutrients that are essential for your wellbeing, but we will ask that you maintain a well-balanced healthy diet.

There are two different forms of iron known as haem and non-haem. Haem iron is found in animal tissues while non-haem iron is found in plant and vegetable materials. The amount of iron you absorb from plants and vegetables ranges from 1% – 10%. Iron absorption is much higher from animal food sources between 10-20%.

What should I avoid?

You should avoid the consumption of vitamins or multivitamin supplements that contain iron.

Vitamin C in tablet form as this increases the absorption of non-haem iron. Vitamin C you gain from fruit and vegetables does not need to be avoided. Avoid breakfast cereals fortified with iron.

Shellfish like oysters, mussels and clams, as these products contain bacteria which may be fatal to people with iron overload.

You may want to reduce your iron absorption from animal foods so you may want to cut down on foods rich in iron like red meat, offal like heart, liver or kidneys.

Substances to include in your diet are:

• Calcium, that is found in dairy products limit the absorption of iron so are helpful to eat when eating meat.

Drinking tea also helps limit the amount of iron absorbed as it contains tannin so it’s good to incorporate having a cup of tea with your meal in an attempt to limit iron absorption.

Alcohol

Alcohol can be consumed but you must adhere to safe alcohol levels of 14 units or less per week. If you have liver cirrhosis, we advise abstinence from alcohol.

Will I need follow up appointments?

All patients with haemochromatosis regardless of how frequently they attend for phlebotomy will have either a follow up telephone or face to face appointment every 6 months with a consultant or nurse practitioner to assess how you are.

What will happen if I do not attend an appointment?

If you do not attend your outpatient/telephone appointment you may be offered an alternative appointment or referred back to your GP and he will discuss with you whether you want to engage with the hospital for further appointments or if you would rather be followed up by your GP.

If I have any questions, who should I contact for advice?

You could contact one of the liver nurses via our hospital switchboard telephone 0191 482 0000 Mon to Fri 8:30 am until 4:30 pm; alternatively, you could speak to your consultant’s secretary or seek the advice of your GP. Out of hours if you need to talk to someone about your appointment or any other issue which could not wait until the next working day during office hours you could speak to the senior nurse by contacting the hospital switchboard and requesting you speak to the senior nurse.

How to contact us?

If you decide you do not want to have the procedure for any reason, please contact the PIU department as soon as possible informing them of your decision and rebook an alternative date. Please be mindful that by not having your procedure could result in worsening of your symptoms. If you have any other special requirements, please don’t hesitate to contact the PIU department and have a discussion with a member of staff to see if they can help.

If you need more advice or would just like to have a chat about your procedure please contact PIU nursing team, or alternatively you can contact the liver nursing team via the hospital switchboard on Tel 0191 482 0000.

Procedure and investigation department (PIU) telephone 0191 445 2824 or 0191 445 3808 – phone lines open 9:00- 15:30pm (Mon-Fri)

If you have any questions regarding anything raised in this leaflet, please discuss with your doctor or nurse before the procedure begins.