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If they have a baby with somebody who is also a carrier of haemochromatosis, there is a significant chance that the baby will receive two sets of mutated genes and develop haemochromatosis. As well as HFE, there are other genes known to be involved in iron absorption, and research is ongoing in this area.

Iron overload

Nine out of 10 people with genetic haemochromatosis inherit the defective HFE gene. Secondary haemochromatosis occurs as a result of another factor; usually a blood condition. Possible causes include:. It can be difficult to diagnose haemochromatosis as many of the typical symptoms can also result from other conditions.

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In most cases, your GP will refer you to a specialist in liver or heart disorders, who can then diagnose the condition. Sometimes, a liver biopsy is needed. This involves taking a small sample of liver tissue to detect the amount of liver damage caused by iron overload. If you are diagnosed with primary haemochromatosis, it is likely that close members of your family may also need to be tested for the condition.

Haemochromatosis is treated by a method known as venesection or phlebotomy, which involves removing iron-rich blood from the body. The blood is removed in a similar way to blood donation. The amount removed is roughly the same as one unit removed in a blood donation. That unit of blood will often contain around a quarter of a gram of iron.

Phase 1: initially, venesection will be performed often, usually around once a week.

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This treatment schedule will continue for a year or more, depending on the amount of iron build-up. During this time, the levels of stored iron in your body will be monitored. Treatment will continue until your body has minimal iron stores.


Phase 2: after your stores have been depleted, you will go into a second phase of treatment. Iron will continue to build up gradually, so your iron levels will have to be continually monitored. It is likely that you will need to have venesection treatment every few months to keep your iron levels low.

Venesection will help to improve some of the symptoms of haemochromatosis, such as fatigue, nausea and abdominal tummy pain. However, more severe symptoms and conditions caused by iron build-up, such as cirrhosis, cannot be reversed through venesection. In some cases, primary genetic haemochromatosis can also be treated by a drug that binds iron and allows it to be excreted from the body.

If haemochromatosis is diagnosed before excessive build-up of iron occurs, it is not thought to affect life expectancy. However, there are steps you can take to minimise your intake of iron:. Handbook of Iron Overload Disorders. Barton , Corwin Q.

Haemochromatosis Australia

Edwards , Pradyumna D. Phatak , Robert S. Britton , Bruce R. A practical, clinically-oriented handbook of iron overload disorders giving a compact guide to normal iron metabolism, iron-related pathobiology, and the diagnosis and management of heritable and acquired iron overload disorders.

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Many of these disorders were discovered and characterized only in the last decade, and are unmentioned or inadequately described in most texts. Written by clinicians for clinicians, this handbook summarizes information on diverse iron overload conditions, including their history, signs, symptoms, physical examination findings, genetics, genotype-phenotype correlations, pathophysiology, differential diagnosis and treatment.

Most physicians, regardless of specialty, encounter patients with systemic or organ-specific iron overload conditions. This book contains essential information for practising adult and pediatric medical specialists in the fields of hematology, gastroenterology, hepatology, rheumatology, endocrinology, diabetology, neurology, oncology, dermatology and internal medicine. Pathologists, pharmacologists, geneticists, genetic counselors and epidemiologists will also find substantial, up-to-date sections in this handbook that are pertinent to their respective fields of interest. Chapter 2 Normal iron absorption and metabolism.

Chapter 3 Iron toxicity. Chapter 4 Tests for hemochromatosis and iron overload. Chapter 5 Complications of hemochromatosis and iron overload. Because the insurance industry doesn't like "hereditary hemochromatosis" and what it can do to the body and it certainly doesn't like the kind of medical bills that it can create for the patient.

It considers hemochromatosis to be a potentially fatal disease which will cost them a lot of money before the patient dies. Of course, hemochromatosis, when diagnosed early, does not cause organ damage or death, and the patient will have a normal life span. In addition, the patient is not going to cost the insurance company a lot of money.

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  8. The problem is that the insurance industry is behind the times when it comes to judging insurability of a HFE-associated hereditary hemochromatosis patient. What can you do? If you think you are at risk for having hemochromatosis, you must be tested. However, you can easily test yourself to find out if there is indeed any genetic risk. How can you do that?

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    Their web site: www. Many patients have used this testing method known as "DAT" or direct access testing, which keeps the results private, confidential and for your eyes only. Based on your test results, you can decide how to proceed. Early stage cases may only need to donate blood from time to time, other cases, which are more advanced, will need to be evaluated by a medical expert in the field of hemochromatosis. Welcome to our web site which features information on HFE associated hereditary hemochromatosis. We are here to help you in any way we can Click here for for the latest letter from Sandra.

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    The most common form of iron overload in the U.S.

    Has this web site helped you in your search for information on hemochromatosis? Has a phone call to our office, a visit to our web site, helped you get a diagnosis of hemochromatosis for yourself or a loved one? If so, please help us to carry on our quest to educate the public and medical community about HFE-associated hereditary hemochromatosis. You may become a member or make a tax deductable donation through our secure web site or through the mail.

    Donations may be made to honor the memory of a friend or loved one or to hononr someone who is living, such as the doctor who diagnosed you and saved your life from hemochromatosis. Remember the American Hemochromatosis Society in your will or trust. Help us to save help others through your generous giving. Click here to use our secure donation form.