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Haemochromatosis

Iron in small quantities is essential to life, particularly for the function of haemoglobin, the blood protein which carries oxygen to the tissues. Normally iron is taken into the body from food via the intestine (known as "absorption").

ABOUT ONE PERSON IN EVERY 300 has the disease haemochromatosis while about 12% of our Australian population are carriers of one haemochromatosis gene.

Once the iron is absorbed the body has no way of getting rid of excess iron. Some people have a disease called haemochromatosis in which too much iron is absorbed. If this disease is not diagnosed and treated, iron can damage vital organs and shorten a person's life.

Haemochromatosis is a genetic (family inherited) disorder in which too much iron is taken into the body over and above the needs of the body. It is caused by an abnormal gene, recently described and called the HFE gene. A gene is a code for a family likeness or characteristic. There are millions of genes located on our 23 pairs of genetic material (called chromosomes) that we inherit from our parents, half from each parent.

Individuals inheriting one haemochromatosis gene and one normal gene are called carriers. Their iron absorption may be slightly higher than normal but most do not absorb enough iron to cause any significant health problems. If two carriers marry, each of their children has a 25% chance of inheriting two haemochromatosis genes and a 50% chance of inheriting one haemochromatosis gene. Carriers can now be identified by a new gene test for the HFE gene.

Facts About Haemochromatosis
Second Edition 2003

Contents

• Introduction
• What is Haemochromatosis?
• What are the symptoms of
• Haemochromatosis?
• Who may be at risk of
• Haemochromatosis?
• How is the diagnosis made?
• Screening of relatives
• Is there a treatment?
• How effective is the treatment?
• What is the outcome?
• Are there support groups?

Download

Facts About Haemochromatosis is now available as an A4 size pdf file.
Haemochromatosis (Adobe Acrobat PDF 644K)