Gastroenterology - Haemochromatosis

What is it?

Haemochromatosis is an inherited disorder caused by an overload of Iron in your body. The body has no way to rid itself of the excess iron and it is gradually stored in tissues, specifically the liver, the heart and the pancreas, joints or the endocrine glands causing serious tissue damage.

It is now recognised as being one of the most common genetic disorders.

Haemochromatosis usually presents in men aged between 30 – 40yrs or women aged 50yrs. Surveys show 1:200 people are likely to be at risk of developing iron overload.

To develop Haemochromatosis, a defective gene must be inherited from both parents. People who have inherited the defective gene from only one parent are carriers and will not usually be at risk of iron overload. Their children will have a 1 in 2 chance of being carriers. If both parents are carriers their children will have a 1 in 2 chance of being carriers and a 1 in 4 chance of being at risk of developing iron overload.

Symptoms

Symptoms develop as iron builds up. Some symptoms can also be caused by other illnesses.

• Tiredness, fatigue or lack of energy or a feeling of weakness in your limbs
• Pain in the joints especially the knuckles and joints of the first two fingers
• Abdominal pain in the stomach area, upper right hand side or diffuse
• Loss of libido – possibly impotence or early menopause
• Abnormal liver function tests, enlarged liver, cirrhosis
• Shortness of breath/heart irregularity
• Late onset Type 2 Diabetes
• A yellowing or ‘bronzing’ of the skin
• Confusion
• Mood swings/Depression

Diagnosis

• Blood Tests will be performed to assess iron content and liver function
• A Gene test to confirm the HFE gene mutation and identify family members at risk of loading iron before they too have problems
• Liver Biopsy (to assess Iron accumulation or liver damage)
• Early diagnosis and treatment preserves normal life expectancy and good quality of life

Treatment

Treatment is simple and effective and consists of regular removal of blood. A pint of blood may need to be removed weekly for up to 2 years and then 2 – 4 times a year for life thereafter.

Regular blood tests to check Iron levels should be maintained.

The aim would be to maintain your ferritin level below 50ug/L.

What is Venesection?

This is a term used when blood is extracted in a similar method as used for blood donation.

A trained professional will insert a needle into a vein on your inner arm. You will feel a slight pain as it is inserted but the rest of the procedure should be painless.

The blood is collected and discarded - it cannot be used for any other purpose. The needle is then removed.

Alternatively, you may be able to donate blood via the blood transfusion service (Telephone to enquire: 03001232323).

You may feel a little dizzy or nauseous during or after and would be advised to rest for a short while.

Over the next 24hours it will help to drink plenty of fluids and eat regularly to replace your lost blood cells.

You will need a blood test 1 week after venesection to check ferritin levels.

Venesection may need to be repeated until a target ferritin level of 50ug/L is met.

Diet

A good balanced diet is recommended. The amount of iron absorbed from most foods is very small compared with the iron removed by venesection.

The rate of iron absorption can be slowed by:

• Avoiding iron supplements
• No vitamin C or multivitamins that contain Iron
• Avoid shellfish – they may contain bacteria that may be fatal to people with iron overload
• Avoid breakfast cereal with fortified iron
• Limiting alcohol intake particularly with meals as it increases iron absorption
• Taking tea and dairy products with a meal reduces the amount of iron absorbed
• Cut down on red meat and avoid liver

Lastly

As Haemochromatosis is inherited, it can be passed on from parents to children. When one member of the family is diagnosed close relatives should be informed to that they can get themselves tested.

Contact Information

Gastro Nurse Specialists: 0161 656 1538 (Royal Oldham Hospital)
The Haemochromatosis Society (registered charity 1001307)
www.haemachromatosis.org.uk