Haemochromatosis

Haemochromatosis (GH or Genetic Haemochromatosis) is a genetic condition which is inherited by the transfer of faulty genes. As it is a metabolic problem, it is sometimes known as a metabolic condition or disease. Haemochromatosis causes an overload of iron in the circulation by the over absorption of iron from diet. This excess iron gets deposited in various organs such as the heart, pancreas, joints and endocrine glands. However, the organ worst affected tends to be the liver.

The main role of iron in the body is as part of the oxygen carrying molecule in red blood cells. It is therefore vital for life and our well being. A deficiency of iron can lead to anaemia which causes tiredness, lethargy, reduced concentration and other problems as the circulation struggles to maintain oxygen supplies to the body’s organs and tissues. A steady and stable supply of iron through eating food is therefore vital. The liver maintains a small store of this iron so that a ready supply is available as required. But if excessive iron is present in the circulation, it is deposited in greater amounts inside the liver causing liver enlargement and damage. Other organs may also suffer the same problem.

What Are The Symptoms Of Haemochromatosis?

Depending on the level of excess iron and the organs involved, haemochromatosis can cause many symptoms. These include;

• chronic tiredness, lethargy and weakness,

• abdominal pain: sometimes in the upper abdomen,

• liver: enlargement of the liver, abnormal liver tests and liver cirrhosis (please read the page entitled “Liver Cirrhosis” for further details),

• arthritis: pain, swelling and tenderness especially of the hand and finger joints,

• diabetes: with pancreas involvement,

• heart: a thickening of heart muscle (cardiomyopathy) which causes the heart not to function properly. This can lead to heart failure and death,

• neurological: impaired memory,

• psychiatric: mood swings, depression, irritability,

• sexual disorders: loss of sexual drive (reduced libido), impotence in men,

• gynaecological: reduced or absent menstrual periods, premature menopause,

• skin: a bronzing colouration of the skin resembling a tan.

There may be no symptoms of haemochromatosis for some time. Occasionally, one or two mild symptoms may appear. Therefore, this can be a difficult diagnosis to make. But if left untreated, serious complications may arise such as heart or liver failure requiring a transplant.

Which Tests Are Required?

1. Ferritin

Ferritin levels are measured by a blood test and indicate the amount of iron stored in the body. Therefore, in haemochromatosis the serum ferritin level can be elevated. However, in the early stages of this condition the ferritin level may in fact be normal.

2. Transferrin Saturation (TS)

This measure of iron accumulation is a good indicator of the likelihood of haemochromatosis. TS is calculated as a ratio of 2 other blood tests.

3. Liver Biopsy

A sample of liver tissue may be required for analysis under a microscope. This enables the liver to be assessed for conditions such as cirrhosis. Liver biopsies can be done unguided or guided by ultrasound. After the position of the liver has been established, a local anaesthetic is injected into the skin. This is usually done over the upper right side abdomen or between the lower ribs. After the skin is numb, the doctor makes a small incision into the skin and inserts a needle (sometimes called a Trucut) into the wound. This is inserted into the liver and removed. It will contain a small sample of liver tissue.

4. Gene Test

Haemochromatosis is a recessive genetic condition. The faulty gene is thought to be the HFE gene. Two copies of this gene must be present for an individual to suffer from this condition. If only one is present the individual is a carrier of the condition but does not suffer from the disease itself.

How can Haemochromatosis be treated?

The main stay of treatment for haemochromatosis is venesection therapy which is also sometimes known as phlebotomy. This is the regular extraction of blood from the patient in a process similar to blood donation. Every pint of blood extracted contains approximately 0.25g of iron. The effect of this is for the body to use some of the excess iron stored for its normal usage. Venesection is usually performed once a week and may last 2 years or more. During this time ferritin levels are closely monitored until they are deemed to be low enough to indicate minimal iron stores.

However, despite this, the basic condition of excessive iron absorption from the gut still remains. Therefore, regular checks need to continue every 3-4 months for the remainder of the patient’s life. Venesection can then be repeated as required depending on the amount of iron stores.

Despite this treatment, complications such as liver cirrhosis and diabetes can not be reversed if they are already present. Early diagnosis is therefore important. In these cases life expectancy is normal.

Regardless of the fact that iron is obtained through dietary intake, it is always advised that diet should remain as normal as possible. This involves eating a well balanced and nutritional diet. However, it is important to follow some simple measures as outlined below:

• avoid vitamin supplements and other foods which are fortified with iron. These may include breakfast cereals.

• avoid large doses of vitamin C as this enhances absorption of iron and increases deposition in some organs.

• reduce intake of red meat, liver and kidney as the absorption rate from these foods is greater than others.

• reduce or stop alcohol as this also increases iron absorption, especially if drunk with meals. Alcohol of course may also aggravate liver disease.

• tea and milk taken with a meal can reduce the amount of iron absorbed.

From Surgery abroad with Globe Health Tours.