| First Fleet Index - Curse of the Vikings | |
FRIDAY. December 8th 2000 Curse of the Vikings haunts white Aussies Brendan O'Malley [science reporter] SCIENTISTS have discovered that the most common inherited disease among white Australians, the deadly liver illness haemochromatosis, was spread by the Vikings. Queensland Institute of Medical Research sociologist Cosette Monk said the defect, which caused the liver to hoard huge amounts of iron, started with the Celts. Her studies showed that after the Celts migrated from around Austria to what is now Ireland, Great Britain and the Brittany region of France, the Vikings then spread the gene across eastern Europe. Natural selection ensured most serious genetic diseases were rare. However, scientists believe haemochromatosis spread rapidly because it helped the Irish and poor Europeans survive during famines when iron intakes were inadequate. Ms Monk said convicts and free settlers brought the defect to Australia which explained the very high levels of the disease in Queensland and other states. She traced the gene through eight generations of Australians descended from convict Nathaniel Lucas and his wife Olivia Gascoigne, who came from the midlands area of England. About 10 percent of people with Celtic ancestry now living in Australia carried at least one copy of the gene and about one In 400 people developed the disease. A screening test was available, but if untreated it could result in extreme tiredness, low libido, diabetes, depression, heart and liver disease. "I looked at gene traits and blood group markers across Europe to see where the gene was most common," Ms Monk said. "What I found correlated very well with actual cases of haemochromatosis and evidence of early Scandinavian settlements. "There were studies done in Western Australia, but I wanted to look at the east coast because that was where most of the population changes were taking place. "Ms Monk said the sixth to eighth generations of the Lucas family had twice the normal carrier rate for haemochromatosis. The findings came as the Queensland Institute of Medical Research announced it had clinched $1.3 million in haemochromatosis research funding from the National Institutes of Health in the United States. Professor Lawrie Powell, who led the QIMR-University of Queensland haemochromatosis team for many years. said the spread of the gene suggested it conferred a "selective advantage---. In other words, the mutation had hung around because it was useful. "I got interested 30 or more years ago at Royal Brisbane Hospital when I was looking after a family of women," Professor Powell said. "At the time the literature said only alcoholic men got It. so I wanted to work out why these women had it. Women lose a lot of iron in childbirth and during menstruation, so it might have been an advantage in times of famine to have a gene which accumulated iron.--- QIMR and the university are trying to discover the role the gene played in iron absorption by, the gut and how iron was transported. Hopefully leading to drugs for both haemochromatosis and iron deficiency. MARGARET Rankin's nursing training told her there was something terribly wrong with her body, but for 10 exhausting years no doctor could figure out the puzzle. "One day 1 went to a rheumatologist and told him that if this was what I was meant to feel like at my age, then I would go out then and there and dig the hole for my grave," she said. "That made him sit up and eventually he worked out it was haemochromatosis. At the time I couldn't find any information on it and my rheumatologist was very surprised I had It." When Mrs Rankin was diagnosed, it was thought women could not get the disease, which resulted from a devastating build-up of iron in the liver. Because women lost significant amounts of iron during menstruation and childbirth, it was believed they were not only immune, the gene could actually help women with inadequate iron intakes. ---What doctors often don't take into account is there are women like me who have had a hysterectomy at an early age," Mrs Rankin said. But I also know of a woman who lost a lot of blood after giving birth to triplets and still got it.--- The lack of support and information on the disease spurred her to form the Haemochromatosis Society of Australia. - Brendan 0 'Malley Haemochromatosis.- a known genetic risk in the Lucas Clan. Haemochromatosis.- is an inherited disorder of the iron metabolism, in which the body absorbs and stores excessive iron from the diet. It is caused by a mutation in the HFE gene on chromosome 6. There are two HFE gene mutations, known as C282Y and HD. About 1 in 7 people in Australia carry one copy of the mutated gene, and 1 in 200 people have two copies of the gene ( one from each parent ). A recessive disorder, you need to inherit a copy of the mutation from each parent to develop Haemochromatosis. However, inheriting one of each of the mutations (which could come from just one parent) puts you at moderate risk of developing the disease. Symptoms of the Haemochromatosis vary for different individuals, some being more affected than others. Women have some protection due to menstration. People with a family history of premature death due to heart attack, liver disease, diabetes or cancer may also be at high risk. Diagnosis is via a simple blood test called Serum Iron Studies. For confirmed diagnosis, DNA tests should be done on family members to check their level of risk. Symptoms may include, Chronic fatigue / weakness, lethargy, arthritis joint pain, fibromyalgia, loss of libido or impotence, infertility, amenorrhea – early menopause, changes in skin colour such as jaundice, tan that never fades (bronze colour ) or grey coloured skin, abdominal pain, shortness of breath, arrhythmia, palpitations, dizziness, depression, hair loss, major organ damage, cardiac problems, diabetes, cirrhosis of the liver. Haemochromatosis is a treatable disease, with the treatment consisting of venesections (removal of blood, such as a blood donation). Removing blood reduces the bodies’ iron levels. The amount of venesections initially required will depend on the level of iron overload present (your doctor will advise you). Treatment is ongoing for the rest of your life, with maintenance of this condition being as simple as donating blood 3 to 4 times a year. For those members of the family who want further information on this subject, they should contact the Haemochromatosis foundation of Victoria, 78 rowans Road, Highett, Victoria. 3190 Phone (03) 9555-6879 Fax (03) 9532-1620. Or email them on larking@alphalink.com.au. Elizabeth believes there is a link between melanoma and the HFE mutation for haemochromatosis. She writes:- we do not have a gene missing it is a change in the HFE gene (mutation) at position C282Y that causes haemochromatosis. It is interesting to note that the protein is changed from cysteine (normal) to tyrosine. Tyrosine is the amino acid that makes up melanocytes. A melanoma is composed of melanocytes. Many people who have Haemochromatosis have tanned skin. A melanocyte produces melanin which of course colours the skin. Many people with this gene mutation have a lot of moles. Often a person with an overload of iron has low HB. People who suspect they may be at risk should request a blood test called iron studies which includes Iron, Transferrin, Transferrin saturation, TIBC and Ferritin. When looking for information spell it without the a Hemochromatosis. HAEMOCHROMATOSIS Introduction What is Haemochromatosis? 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. Individuals inheriting two haemochromatosis genes will absorb far too much iron. This iron slowly builds up in the liver, heart, pancreas and other hormonal glands and joints. It takes many years to build up iron to a level which causes damage to these organs, but by the time the damage occurs, it is often too late for the organ to repair itself and some permanent damage may remain. How common is Haemochromatosis? About one person in every 300 has the disease haemochromatosis while about 12% of our Australian population are carriers of one haemochromatosis gene. This means that in a city of the size of Sydney there are approximately 12,000 people affected by the disease and 400,000 people carrying one haemochromatosis gene. This makes haemochromatosis one of the commonest genetic diseases in our society, although many people are only mildly affected. What are the symptoms Haemochromatosis? Symptoms vary considerably among patients. The symptoms resemble those of many other medical conditions, making diagnosis difficult. The symptoms may include fatigue, weakness, weight loss, abdominal discomfort and joint pain. A tanned appearance, not due to sun exposure, may also occur. Other symptoms may develop later as a result of organ damage to the liver, heart (palpitations, shortness of breath, chest pain), pancreas (thirst or frequent urination as a result of diabetes), or other hormonal deficiencies (loss of sex drive or body hair). However, most young people with the disease have no symptoms or only minor symptoms in the early stages of the disease. Who may be at risk of Haemochromatosis? Blood relatives of patients (particularly close relatives such as brothers, sisters and children). Individuals with symptoms of the disease. Individuals with diabetes, arthritis and certain heart problems. If you have some of the symptoms mentioned above, do not overreact and conclude that you have haemochromatosis because there are many other causes for such symptoms. See your family doctor and discuss your concerns. How is the diagnosis made? A blood relative of someone with haemochromatosis should have a simple blood test for the HFE gene to see if they are at high risk of haemochromatosis. This blood test is available (after discussion with your general practitioner) through usual pathology laboratories. In people without any family history of haemochromatosis, the two most useful initial blood tests are: Screening of relatives After a diagnosis of haemochromatosis is made, all close relatives over the age of 10 years should be screened for haemochromatosis. Close relatives include brothers, sisters, parents and children. Cousins, aunts and uncles should also be tested, although the risk is much lower. Family screening will include an examination by a doctor, with blood testing as described above, to determine which family members are likely to have the disease. In some cases, blood tests will need to be repeated in 2 years as sometimes the excess iron does not become apparent until later life. Early diagnosis and treatment of family members with the disease is essential to prevent organ damage. Is there are treatment? Yes, By removing about 500ml of blood, as in blood donation, usually once a week, the body is stimulated to make more blood and this uses up the excess iron. This is called "venesection treatment". Depending on the amount of iron in the body, the initial treatment may take one or two years. Blood tests are done to monitor the iron removal. Once the excess iron has been removed, venesections are done about four times a year to prevent iron building up again. Treatment should continue for the rest of the person's life. How effective is the treatment?What is the outcome? There is good evidence that with removal of excess iron, patients feel better, stronger, their tan colour lessens, liver size decreases, diabetes may improve and heart function improves. If treatment has been commenced early, damage to the liver and other organs may be completely prevented. If cirrhosis (liver scarring) is present it is usually not reversed by treatment, but should not get worse. Without venesection treatment, iron continues to build up and organ damage continues. It is not possible to treat haemochromatosis with a low iron diet, since iron is present in most foods, and it is the iron already in the body which will cause damage. However, it is advised that patients with haemochromatosis do not take iron tablets of any type, nor vitamin tablets containing iron or vitamin C (ascorbic acid) as vitamin C can increase iron absorption. People with haemochromatosis may also consider reducing red meat intake (e.g.. to approximately 90-120 grams a day). Alcoholic drinks in small quantities (e.g.. two glasses or less per day) are not usually harmful, but if there is liver damage your doctor may advise you to have no alcohol. Are there support groups? Yes. Some large hospitals have support groups for patients and relatives with liver diseases and haemochromatosis. If not, you could contact the : This article was in the Melbourne Newspaper THE AGE and was written by Victoria Button on the 26th January 2000. Servant girl Olivia Gascoigne and builder Nathaniel Lucas were the beginning of a First Fleet dynasty - a troubled one. The convict couple's descendants have a history of problems arising from a genetic mutation called haemochromatosis. Eight generations after the couple landed in Australia, researchers are tracing the mutation among a sample of their 33,000 descendants. Old death certificate written in copperplate and modern genetic tests have provided clues. The researchers have attributed several early deaths in the generally long-lived family to the genetic "iron overload" condition, which renders sufferers vulnerable to heart and liver disease, diabetes, arthritis and tiredness. In the Australian Caucasian population, between one in 180 and 1 in 300 people have two copies of the genetic mutation, meaning they will probably develop haemochromatosis, and about one in eight carries a single copy of the gene, which generally is not thought to have ill effect. One of the researchers, MS Cosette Monk, of the Queensland Institute of Medical Research, has found the Gascoigne-Lucas descendants tested are twice as likely as others to carry the single gene and more than twice as likely to have two copies of it. the identification of the gene and its unusually high incidence in the First Fleet family has prompted discussion of the sort of issues that will become increasingly common as genetic medicine takes off this century. THese issues include whether to take a genetic test, what can be done if it is positive, whether to implement treatment if it is positive, whether anyone will discriminate against you on the basis of the gene and who will have the information. A key member of the family assisting the research Mrs Elizabeth Larking, of Higett, who also runs a haemochromatosis support group, is now a keen supporter of genetic testing for treatable or preventable diseases - but wants a legal ban on discrimination based on the results of such tests. She said family members identified with having haemochromatosis had been able to take measures to improve their health, such as donating blood, avoiding iron supplements, cutting down on red meat, avoiding vitamin c (which helps absorb iron) and drinking in moderation . |
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