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


Normally iron is consumed in our daily diet and the body is finely tuned to take in only as much iron as it needs. Iron is necessary for oxidation (oxygen requirement) of all bodily processes. Because of the chemical properties of iron, it cannot be broken down and eliminated from the body. The iron accumulates in the liver and other major organs.


When iron accumulates in the body as in Haemochromatosis it becomes toxic and is a known cancer causing agent


These are some of the disorders that are associated with Iron Overload:-

Cirrhosis of the liver, cancer of the liver, endocrine and pituitary gland disorders, diabetes, spleen, pancreas and cardiac problems, osteo-arthritis and related conditions.


Most often this is a silent disorder in younger years, rarely exhibiting any symptoms. As iron slowly accumulates, insidious signs and symptoms can suggest many other complaints, such as the early onset of 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), loss of sex drive.

All of these symptoms may or may not be present in one individual. For many sufferers, routine blood tests (e.g. elevated serum iron), or a general check up and physical examination (e.g. elevated sugar or a swollen liver) will provide the first indication of the disorder. Many sufferers are still undiagnosed.


A simple inexpensive blood test will diagnose Haemochromatosis. The test is for iron studies.


(This can vary from laboratory to laboratory)

serum iron 10-30 8-27 unmoles/L
serum ferratin 20-250 10-150 ug/L
transferrin saturation 10-50 10-35%

If these tests are elevated on more than two occasions and haemachromatosis is suspected, then a liver biopsy is performed to stage the disorder.


This disorder will prove to be one of the most common genetic inherited disorders of this century. The prediction is that 1 person in every 300 of white Australian and Northern European populations will have haemachromatosis requiring treatment.


Gene inheritance is said to occur when a particular family characteristic is passed from one generation to another - such as blonde hair or blue eyes. There are disorders that fit into this inheritance pattern such as diabetes, asthma, cystic fibrosis and genetic haemachromatosis.

In genetic haemachromatosis the disorder occurs when two people who are each carriers of the characteristic (gene) have children. In simple terms there is a 1 in 4 (25%) chance of these children developing the disorder. The parents and their unaffected children are carriers of only one gene, and usually will not suffer adverse effects. However, they may have a tendancy to accumulate iron and suffer from a milder condition.


This is the key to treating this disorder. Having prompt treatment may prevent further organ and tissue damage that is associated with "iron overload" and so will improve your quality of life. If you suspect that you have this disorder, please consult with your physician who will be able to order the blood tests and treatment as necessary.


If you are diagnosed as having haemachromatosis, your spouse, children and all blood relatives should be screened for the disorder to gain an early diagnosis. You cannot "catch" the condition like measles or hepatitis etc.


Treatment of haemachromatosis consists of venesections (removal of blood, similar to a blood donation). The amount of iron overload that you have will regulate how often you will have a venesection, but treatment is usually weekly for at least 18 months, with life-long follow-up. Your physician will outline your goals and outcome with you.


If you or someone you know is diagnosed with this disorder, it would be worthwhile to join a group. An annual subscription is required and more personal support and education is available from the group. The Haemachromatosis Information Service and Support Group (Inc) (in Australia) publishes a detailed information kit and newsletters for members to keep up to date with the latest research and treatment for the disorder.


Annu. Rev.Nutr. 1996.16;139-60

Crawford Darrell HG,Powell Lawrie W, and Halliday June W.

This is a review of the above article.

The prevalence of haemochromatosis remains 1:300-400, with 1:200 of the caucasian population being actually affected (biochemical expression) by these genes.

The basic defect for iron overload still remains unknown.

The location of the HFE Gene has allowed early diagnosis and treatment in some instances of high risk families and can give some indication of the degree of iron overload.

Environmental factors to be taken into consideration are sex, as males are usually more severely affected, as women are protected to some degree by menses and childbirth.

Men are observed to express this disorder 5-10 times more frequently than women. Haemochromatosis is rarely diagnosed before the age of 20 years, but now through a genetic test sufferers can be identified much earlier. Pathological and physiologic blood loss is also taken into consideration such as regular blood donations or other mal-absorption disorders such as celiac disease, influence the iron stores in haemochromatosis.


Liver biopsy is important in making a diagnosis, as the degree of iron overload influences survival rates especially in late diagnosis when cirrhosis has occurred. this increases the risk of heptocellular carcinoma and portal hypertension.

It is a sad fact that approximately 30% of individuals with cirrhosis at the time of diagnosis will develop liver cancer.

Alcohol abuse increases this risk.

There must be active surveillance in these patients with frequent liver scans and alpha-fetoprotein measurements. Some cancers can be actively treated if detected early, in some instances liver transplant is warrented.


When the pancreas is affected 30-60% of cases develop diabetes mellitus, and aproximately 50% of these will be insulin dependent.


Evidence of cardiac problems occur in 30% of patients with haemochromatosis. The evidence of cardiac dysfunction may be in the form of arrhythmias (irregular or erratic heartbeat) and a dilated cardiomyopathy dysfunction. This problem can occur with fairly low iron concentration and usually in young adults. Once the iron overload is decreased, this problem usually resolves.


Arthropathy occurs in 50% of cases presented in symptomatic patients. Arthritis usually affects the hands especially the second and third metacarpophlangeal joints. Chrondocalcinosis (a form of calcium deposits) occurs in other joints such as knees, ankles and hips. Arthritis problems usually do not improve with iron removal


In haemachromatosis there is a slow accumulation of iron throughout the lifetime. In the early stages the iron accumulation is silent and only when the iron reaches toxic levels long term tissue injury is sustained. Early symptoms remain insidious i.e. lethargy and fatigue.

It still remains uncertain the role of diet in haemochromatosis, certainly a low iron diet is impossible and fresh iron intake is required daily for normal bodily processes to take place. The most available form of iron is meat which is absorbed extremely well into the system.

Alcohol and Vitamin C enhances iron uptake.

As stated in this article "Variations in diet are likely to influence the rate of iron accumulation in haemachromatosis but would be unlikely to totally mask expression of the disease."

Heterozygous individuals tend to accumulate higher iron stores than the normal population but it is believed that they do not sustain the tissue injury as the homozygote sufferer. The treatment for haemochromatosis in Australia remains to be by venesection. It is the most effective means of iron removal. It is generally considered that venesections should continue for the patients' lifetime. The mechanism for tissue injury in haemochromatosis remains poorly understood.

The improvement in combined awareness of this disorder has lead to earlier diagnosis, treatment and an improvement in overall survival.


Testing should continue in families with high risk, and testing is continued until aged 70 years. Chelation therapy is used only in extreme cases: this treatment is dangerous, expensive, and requires hospital care.

Anyone presenting with long term sexual problems, arthritis, late onset diabetes, and cardiac myopathies and cardiac irregularities should be screened for haemochromatosis.

Lifestyle advice and more info

The above information is courtesy of
The Haemachromatosis Information Service and Support Group (Inc)
(Queensland, Australia)

Visit the Website of the Haemochromatosis Society Australia Inc.

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Last Updated 12 July 1998