Haemochromatosis an inherited disorder

By Dr Michelle Cooper

Published 23/01/2016 | 00:00

Dr Michelle Cooper. Photo Eye Focus
Dr Michelle Cooper. Photo Eye Focus

Haemochromatosis is a genetic disorder which causes the body to absorb an excessive amount of iron from the diet.

The iron may be deposited in various organs, mainly the liver, but also the heart, pancreas, endocrine glands and joints. Over time, these deposits of iron may cause damage to tissues.

SYMPTOMS

Inherited disorders are caused by defective genes in the cells which make up the body. To develop Haemochromatosis one has to inherit a defective gene from both parents.

Many of the symptoms associated with Haemochromatosis are found in other disorders. Most individuals who have Haemochromatosis develop, in time, at least one or two of the following symptoms:

- Chronic fatigue, weakness or lethargy.

- Abdominal pain in the stomach region or upper right-hand side.

- Arthritis which is particularly common in the first two fingers.

- Late onset diabetes.

- Liver disorders.

- Sexual disorders such as loss of sex drive, impotence in men, absent or scanty menstrual periods and early menopause in women.

- Cardiomyopathy-a disease of the heart muscle-may develop.

- Neurological or Psychiatric Disorders leading to impaired memory, mood swings, irritability and depression.

- Bronzing of the skin or a permanent tan.

DIAGNOSIS

Iron tests such as Ferritin levels and Transferrin Saturation levels give an indication of the amount of iron stored in the body, as well as the iron accumulated in the body. These tests serve to indicate those who should proceed to be genetically tested and also guide doctors when treating patients with Haemochromatosis.

Genetic testing for the Haemochromatosis gene mutation is positive in over 90% of those affected. It will also help to identify other family members at risk of iron overload.

Liver biopsy, which involves removal of a small sample of the liver using a small needle, is occasionally recommended when patients' blood tests reveal liver damage or when patients' ferritin levels are extremely high. This investigation gives an indication as to the degree of tissue damage which may have occurred.

Relatives at risk of developing iron overload should be tested. This is essential in the case of brothers and sisters who stand a 1 in 4 chance of being affected. Parents and children from the age of 18 years should also be tested.

TREATMENT

Treatment consists of regular removal of blood known as phlebotomy. It is usually performed once weekly depending on the degree of iron overload. During treatment, serum ferritin levels are monitored and treatment usually continues until the ferritin level reaches 20. As excess iron will continue to be absorbed, the individual will need occasional phlebotomy sessions, on average every 3-4 months for the rest of their lifetime. Monitoring of transferrin saturation and ferritin is used to assess whether phlebotomy is required more or less often.

DIET

It is not possible to treat Haemochromatosis on a low iron diet alone. The following recommendations are important, however:

- Vitamin supplements or tonics containing iron and breakfast cereals fortified with iron should be avoided.

- Vitamin C should be avoided as it increases the absorption of iron from our diet.

- Dietary offal should be reduced, as should red meat consumption.

- Alcohol intake should be minimised, particularly with meals as it may increase iron absorption.

- Tea and all milk products taken with meals reduce the amount of iron absorbed.

For support and further information please visit www.haemochromatosis-ir.com

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