Haemachromatosis - Liver Foundation
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What is Haemochromatosis?

Haemochromatosis is a condition in which the quantity of iron absorbed by the body is much higher than necessary. Iron is essential for the body in small quantities but if excess iron accumulates in the tissues, it can lead to iron overload. The excess iron can build up in the body and affect various organs like the liver, heart and brain. If left undetected, haemochromatosis can result in severe liver damage, amongst other things.

Are there different types of Haemochromatosis?
There are three different kinds of haemochromatosis:

• Hereditary Haemochromatosis
• Juvenile Haemochromatosis
• Neonatal Haemochromatosis

Hereditary Haemochromatosis : This is the most common type of Haemochromatosis. It is a genetic condition, which is present at birth but may not show up until much later in life. This is because the build of iron in the body occurs slowly over many years.

Hereditary Haemochromatosis happens where there is a defect in the HFE gene. This gene is responsible for regulating the amount of iron that is absorbed from the food we eat. Three types of mutations can cause this gene to become defective – C282Y, H63D and S65C gene.

All of us are born with the HFE gene – one inherited from each parent. If a person inherits one defective gene and one normal HFE gene, the normal gene balances out the defective gene. Such a person will be a carrier of the disease but may not present with any symptoms of the disease. Although he may not develop the disease himself, he can pass it along to his offspring.

However, if a person inherits two defective genes, then chances are that the person will suffer from haemochromatosis at some stage in later life.

Juvenile Haemochromatosis: This is caused by another gene mutation called haemojuvelin. It attacks people between the ages of 15 -30. Symptoms can include diabetes, impaired sexual development, infertility or impotence, irregular heartbeats and heart failure. Left undiagnosed or untreated, it can be fatal.

Neonatal Haemochromatosis: This kind of haemochromatosis affects neonates and newborns. It can lead to still born babies or babies which die within a few days of birth.

How common is Haemochromatosis?

Hereditary Haemochromatosis is a fairly common disease affecting around one person in every three hundred. Approximately 12% of Australians are carriers of the Haemochromatosis gene.

Although both men and women can inherit this disease, men are more likely to be diagnosed at an earlier age. In women, it is usually diagnosed around menopause when the body no longer loses iron through menstruation. Men are generally diagnosed between the ages of thirty and fifty.

What are the symptoms of Hereditary Haemochromatosis?

The symptoms of hereditary haemochromatosis can be quite difficult to diagnose because they are similar to many other common illnesses. Common symptoms can include but are not limited to

• Fatigue
• Weakness
• Abdominal pain
• Joint pain
• Bronzing of skin not due to sun exposure
• High blood sugar levels
• Low thyroid function
• Abnormal liver function tests
• Shortness of breath
• Low sex drive
• Depression

So how is Hereditary Haemochromatosis diagnosed?

Blood Tests : Hereditary Haemochromatosis can be diagnosed by simple blood tests. There are many types of blood tests which can detect iron overload in the body.

DNA testing : This is a definitive test for confirming hereditary haemachromatosis. DNA testing is easy to do. A buccal brush (cheek brush) is used to gently rub the inside of the cheek to extract a few cells as a DNA sample. The test will then examine the HFE gene for any mutations. While DNA testing will confirm the presence of hereditary haemochromatosis, other blood iron tests are used to see how far the disease has progressed.

Liver Biopsy: Prior to DNA testing, liver biopsies used to be a common method of diagnosing hereditary haemochromatosis. Your doctor may suggest this if necessary.

Once diagnosed, it is important to carry out screening for hereditary haemochromatosis on first degree relatives (parents, children and siblings) over ten years of age.

How can hereditary haemochromatosis damage my liver?

Hereditary haemochromatosis causes excess accumulation of iron in the liver. This can lead to liver enlargement, fibrosis and cirrhosis. People with cirrhosis are at increased risk of developing liver cancer. If a person with hereditary haemochromatosis also has hepatitis B or C or is an alcoholic, the impact on his liver disease will be worse.

If the disease has progressed to a stage where irreversible liver damage has occurred, a liver transplant may be the only option.

What are the treatment options for hereditary haemochromatosis?
Hereditary Haemochromatosis is a disease of excess iron in the body. To remove this excess iron treatment involves removing 400-500ml blood at regular intervals. This procedure is known as venesection. Regular venesection stimulates the body to create more blood which then uses up the excess iron in the body. Your doctor will monitor how often and for how long you need to have venesections.

Should I pay special attention to my diet if I have hereditary haemochromatosis?

We get iron from our diet and the body absorbs about 10% of the iron from your food.
If you have tested positive for hereditary haemochromatosis, you should be careful with your diet. It is a good idea to consult with your doctor or dietician who will tell you about foods which are good for you and those which you should avoid.

Here are some general guidelines:

• Avoid iron pills or supplements as this can elevate the body’s iron levels
• Avoid vitamin C supplements because vitamin C aids iron absorption.
• Be careful to choose a multivitamin that does not contain iron
• Limit red meats which contain high levels of iron
• Vegetables rich in iron are okay since the body does not absorb too much iron from plants
• Avoid breakfast cereals and breads which are enriched with iron
• Black tea is good, because it contains tannin which helps to minimize iron absorption