Haemochromatosis

Haemochromatosis is a hereditary condition caused by the body’s iron levels building up excessively. It can also be referred to as “iron overload disorder”. Our body uses iron to transfer oxygen in the blood to essential organs. However, too much iron can lead to symptoms such as excessive tiredness, joint pain and more serious health problems if not treated.

Causes

Haemochromatosis is a hereditary condition due to a faulty gene called HFE meaning too much iron is absorbed from our diet. Without the condition, the body only takes in as much as is needed; however haemochromatosis causes more iron to be absorbed than is needed thus causing excess iron to build up in the body eventually leading to symptoms and organ damage. Iron levels increase over years and is deposited in organs including the liver, pancreas, joints, heart and endocrine glands (glands that produce the body’s important hormones) where damage can occur. This can cause numerous severe complications with examples including liver scarring (cirrhosis), liver cancer, heart failure (heart cannot pump properly) and arthritis.

Living with haemochromatosis

Haemochromatosis symptoms can be prevented with adequate treatment, but for people who are at risk or are diagnosed there are some preventative measures that a person can take to reduce iron levels.

A strict low iron diet is not necessary but ways to reduce iron levels include reducing red meat intake (eg. beef, lamb). It is probably best to avoid animal organ meat (eg. liver, kidney and heart) altogether as it is very high in iron. While vegetables, beans and cereals also contain iron, it is more rapidly absorbed from meat. Avoid foods fortified with iron (will be marked on the packaging, for example some breakfast cereals are fortified in iron). Do not take iron supplements. Your intake of vitamin C should be reduced as vitamin C increases iron absorption. Reduce alcohol intake especially with meals as alcohol increases iron absorption and can cause further damage to the liver. A cup of tea or milk (or other dairy products) with meals help reduce iron absorption.

Who it affects?

Haemochromatosis is called the “Celtic Curse” as it is more common in Ireland than any other country in the world. Approximately one in 83 people in Ireland are affected whereas frequency in other northern European countries varies from one in 200 to one in 400. About one in ten people are carriers of the faulty HFE gene in Northern European countries but this rises to one in five people in Ireland. The exact reason it is more common in Ireland is not fully understood. Symptoms usually do not start until the person is over 30. (usually between 30 and 50 but can start earlier). Iron levels are usually building up for years before symptoms appear. Symptoms for women can be delayed as iron levels reduce monthly due to the monthly menstrual discharge.

Symptoms

For many with haemochromatosis, it is symptomless and the condition is only discovered during a general blood test or after being called for screening because a blood relative (eg. parent, brother, sister) has been diagnosed.

The first symptoms of haemochromatosis can include:

·         Excessive fatigue and tiredness

·         Joint pain

·         Weakness

·         Erectile dysfunction in men

·         Irregular or lack of periods in women

 

If the condition is not treated further symptoms can appear including:

·         Subtle skin colour change such as a more bronzed or tanned colour

·         Enlarged liver which can be sore when the upper abdominal area (area where liver is) is touched. This can also lead to jaundice (yellowing of eyes and skin)

·         Diabetes (initial symptoms are excessive thirst and loss of weight)

·         Arthritis (including severe joint pain and stiffness especially finger joints)

·         Damaged heart muscles which leads to chest pain, problems breathing and swelling of hands and feet

·         loss of sex drive (libido)

·        Neurological or psychiatric symptoms that can occur in later stage of haemochromatosis include memory problems, mood swings, irritability and depression

Inheriting the HFE gene

Everybody has two sets of HFE genes, one we receive from our father and one we receive from our mother. If you receive one set that includes one abnormal HFE gene and one normal HFE, you will not develop haemochromatosis but will be a carrier. If a couple who each have an abnormal HFE gene have a baby there is a chance the baby will receive two sets of abnormal HFE gene and hence develop haemochromatosis in later life.

The chances of passing it on

If both parents are carriers of the abnormal gene, here are the risks of passing on haemochromatosis. There is a one in four chance the child will receive two normal HFE genes so they cannot develop haemochromatosis. There is a one in two chance the baby receives one normal and one abnormal HFE gene which means they will not develop haemochromatosis but will be a carrier of the condition. There is a one in four chance that the baby receives two abnormal HFE genes meaning haemochromatosis is a risk in later life. However, even if the person inherits two abnormal genes (one from each parent), the good news is that there is still only less than a one in ten chance of developing haemochromotosis.

Diagnosis

Many of the usual symptoms of haemochromatosis are similar to other conditions meaning it can be tricky diagnosing. Haemochromatosis is often diagnosed during unrelated blood tests. Unless a person has a history of the condition in the family, getting a diagnosis can be slow.

Screening

There is no routine screening programme for haemochromatosis in Ireland. If you have a close blood relative (parent, sibling) diagnosed with haemochromatosis, your risk is higher so a haemochromatosis check is advised. There is a one in four chance of developing haemochromatosis if a close blood relative (parent, sibling) is diagnosed. It is important for other family members including your children to be tested if you are diagnosed. Children of haemochromatosis sufferers are normally not screened until they are at least in their late teens.

Blood tests

Blood tests are used to diagnose haemochromatosis and the two blood tests that can diagnose include:

·         Transferrin saturation: reveals how much iron is readily available to use by the body. Transferrin saturation levels of below 45% may indicate haemochromatosis.

·         Serum ferritin: determines the amount of iron in storage in the body

 Fasting transferrin saturation and serum ferritin are the first tests needing done for anyone suspected of haemochromatosis. If you have increased transferrin saturation the next step can be to take a sample of DNA to check for HFE gene mutation. Serum ferritin is the most commonly used blood test for haemochromatosis as it is a very sensitive test for excess iron and normal ferritin levels essentially rules out haemochromatosis.

A liver biopsy may be performed if tests show high enzymes that indicate liver damage; however thankfully most people are diagnosed early before liver damage is done so liver biopsy is rarely needed. A serum ferritin level of less than 1000mcgg/L means the risk of severe liver damage is less than 1%. Serum ferritin levels higher than 1000mcg/L means an increased risk of liver cirrhosis so a liver biopsy may be required. Alcohol abuse is another reason for ordering a liver biopsy. Raised ferritin levels can also result from other unrelated conditions including alcohol abuse, diabetes mellitus and other liver conditions.

Treatment

Treatment is quite simple. It involves regularly removing blood from the body which has the effect of reducing the body’s iron levels. Blood is removed in the same manner that we give a blood donation (technique is called a phlebotomy which involves taking blood from a vein). About 400 to 500ml of blood (200-250mg) is taken on each occasion which again is similar to a blood donation.

Phlebotomy therapy has two stages:

·         Induction: blood is taken frequently (usually weekly) until iron levels return to normal. Can take up to 12 months 

·         Maintenance: blood is removed less regularly (generally every two to four months) to maintain iron at normal levels

Some GP surgeries offer a phlebotomy service otherwise you will be referred to a hospital to undergo the service. Should a haemochromatosis sufferer wish to donate blood, the Irish Blood Transfusion Board currently runs a dedicated clinic one day per week especially for haemochromotosis patients who meet the criteria of donating blood. However, you must be referred by your GP to avail of this service.

On some rare occasions a person cannot undergo phlebotomy for medical reasons. When this happens, a treatment called chelation therapy using a tablet called deferasirox is an alternative treatment option. Deferasirox works by binding to iron in the body and then excreting it from the body via urine or stools. Side effects can include nausea and diarrhoea.

This article is shortened for this Health Blog.. More detailed information and leaflets is available in Whelehans or check www.whelehans.ie

Eamonn Brady is a pharmacist and the owner of Whelehans Pharmacy, Pearse St, Mullingar. If you have any health questions e-mail them to info@whelehans.ie