What is Haemochromatosis?

Haemochromatosis is a disorder of iron regulation (metabolism) in your body. Because the regulation of iron absorption is "out of kilter", excess iron is stored in the tissue. The abnormal regulation of iron absorption is believed to occur in the gut. Iron accumulates over a long period of time causing "iron overload" in the body.

Normal Absorption

Iron is consumed in our daily diet and the body is normally finely tuned to take in only as much iron as it needs. All the body's cells need iron. Iron is especially important for red blood cell development and to carry oxygen around the body. Because of the chemical properties of iron, it cannot be broken down and eliminated from the body.

Excess Absorption

When iron accumulates in the body in Haemochromatosis it becomes toxic and can damage the body's organs. The most important test is the transferrin saturation. Individuals with Haemochromatosis almost always have a transferrin saturation above normal, i.e. above 50%. The ferritin measures the amount of iron stored in the body. The normal range for ferritin depends on age and sex (up to 200 ug/L can be normal for premenopausal females, while levels up to 500 ug/L can be normal for males and post-menopausal women).

Major Disorders

These are some of the disorders associated with iron overload:

Cirrhosis if the liver (sometimes followed by cancer), arthritis, pancreatic damage, diabetes, cardiac problems and impotence.

Signs & Symptoms

Most often this is a silent disorder in younger years, rarely exhibiting and symptoms. As iron slowly accumulates, insidious signs and symptoms can suggest many other complaints such as arthritis or stomach complaints. The most persistent symptoms are tiredness, fatigue, not feeling well for a prolonged period of time, abdominal discomfort, swollen liver, joint pains, slate grey appearance or bronze complexion (good suntan without the exposure) and loss of sex drive. All of these symptoms may or may not be present in one individual. For many sufferers a routine blood test (e.g. elevated serum iron), or a general check-up and physical examination (e.g. elevated sugar levels or a swollen liver) provide the first indication of the disorder. Many sufferers are still undiagnosed.

Diagnosis

A simple blood test can help to diagnose Haemochromatosis. The test is for "full iron studies". If the transferrin saturation is elevated on more than two occasions or if the ferritin is raised Haemochromatosis should be suspected.

How Common Is It?

The abnormal gene is extremely common, 1 in 7 normal people of European descent are carriers and 1 in 200 people in New Zealand have Haemochromatosis.

Gene Inheritance

Gene inheritance is said to occur when a particular family characteristic is passed on from one generation to another such as blonde hair or blue eyes. The gene for Haemochromatosis is recessive, that is, patients with Haemochromatosis must have inherited two separate genes, one from their mother and one from their father. Carriers have one affected copy and one normal copy of the gene but are completely normal. The diagram below shows the possible outcomes for offspring from two parents which are carriers:

HH = person with Haemochromatosis Hn = carrier of Haemochromatosis nn = normal H = gene for Haemochromatosis n = normal gene

Early Detection

This is the key to treating this disorder. Having prompt treatment may prevent further organ damage and improve your quality of life. Please consult your General Practitioner who will be able to order the blood test and refer you for treatment as necessary.

What About My Relatives?

If you are diagnosed as having Haemochromatosis, your children and blood relatives should be screened for the disorder to make an early diagnosis. Testing your spouse can be helpful in some situations. You cannot "catch" the condition like measles or hepatitis, etc.

Treatment

Treatment of Haemochromatosis consists of venesections (removal of blood) similar to a blood donation. Venesections will be done as often as necessary, with the frequency depending on your amount of iron overload. This may be weekly or monthly to begin with, and then life-long infrequent maintenance venesections. Your physician will outline your goals and treatment with you.

The Support Group Can Help

If you or someone you know is diagnosed with this disorder, it would be worthwhile joining our group. A small annual subscription is required and more support and education is available. We publish a newsletter for our members to keep up-to-date with the latest research and treatment. As a support group, we look forward to assisting you in your time of need.

MAJOR ORGAN DAMAGE IS PREVENTABLE

WITH EARLY DETECTION AND TREATMENT

For more information check out our list of international websites.

THIS DISORDER IS:

POTENTIALLY LETHAL

UNDERDIAGNOSED

TREATABLE