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Topic: Haemochromatosis


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In the News (Sun 3 Jun 12)

  
  Haemochromatosis - Wikipedia, the free encyclopedia
Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction.
Haemochromatosis is notoriously protean, i.e., it presents with symptoms that are often initially attributed to other diseases.
When these investigations point at haemochromatosis, it is debatable whether a liver biopsy still needs to occur to quantify the amount of accumulated iron.
en.wikipedia.org /wiki/Haemochromatosis   (1324 words)

  
 index.html
Haemochromatosis tends to be under-diagnosed, partly because its symptoms are similar to those caused by a range of other illnesses.
A person with haemochromatosis is treated with venesection until iron in the blood is reduced to normal levels.
Haemochromatosis is a common inherited disorder, which causes the body to absorb more iron than usual from food.
www.haemochromatosis.org.au   (935 words)

  
 IRONZ - The New Zealand Haemochromatosis Support & Awareness Group
Some people who are carriers have Haemochromatosis symptoms or a moderately raised serum ferritin but generally you are OK. Your siblings and other close relatives on the side of the family of the parent who passed the gene to you should be checked.
Normal practice when someone is diagnosed with Haemochromatosis is to venesect frequently (weekly, fortnightly or monthly depending on the initial diagnosis level) until the level reaches 100ug/L, or a level recommended by your Haematology specialist, then monitor from that point with blood tests.
What is important though, is that all first degree relatives of your son (parents, aunts, uncles, children, and cousins if their parents have the gene) should have the same test that clinched the diagnosis in his case (usually the HFE gene is analysed for a specific abnormality known as the Cys282Tyr mutation).
www.ironz.org.nz /faqs.htm   (3065 words)

  
 firstvisit.html   (Site not responding. Last check: 2007-10-21)
Hereditary Haemochromatosis is one of the most common, yet least often diagnosed disorders affecting the population.
Haemochromatosis is an autosomal recessive gene disorder, ie.one gene from both male and female is required to pass on a particular characteristic such as Haemochromatosis.
Since the identification of the gene which causes haemochromatosis was made in 1996, a simple genetic test has been developed to test suspected sufferers as well as their close blood relatives.
www.haemochromatosis.org.au /firstvisit.html   (1769 words)

  
 HAIN LIFESCIENCE GMBH - Service    - hemochromatosis
Haemochromatosis is a hereditary iron storage disease which can lead to chronic damage to important organs.
In hereditary haemochromatosis there is a chronic positive iron balance since the body continuous to absorb excessive amounts of iron (4-5 mg) despite the filled iron stores.
Haemochromatosis often remains undiscovered or is diagnosed too late since not all patients develop the full blown disease and it is difficult to make an appropriate differential diagnosis on the basis of the uncharacteristic early symptoms.
www.hain-lifescience.com /service/hemochromatosis.html   (980 words)

  
 Haemochromatosis
Haemochromatosis is a disease caused by excess iron in the body.
This is usually caused by an inherited abnormality known as hereditary haemochromatosis.
Haemochromatosis is more common in Caucasian or white populations, with about 1 in 300 to 1 in 400 affected.
www.netdoctor.co.uk /diseases/facts/haemochromatosis.htm   (947 words)

  
 Haemochromatosis
Haemochromatosis is a chronic (long-term) disorder of iron metabolism involving the excessive absorption and inappropriate storage of iron.
Haemochromatosis is an inherited (genetic) condition and is considered to be the most common genetic disease in the world.
If one parent has haemochromatosis (ie: has two copies of the gene) and the other parent is a carrier (ie has one copy of the gene), the children will have haemochromatosis or be carriers for the condition.
www.southerncross.co.nz /index.cfm?316B8738-F964-4D19-BBA1-D6301B50B611   (1062 words)

  
 BBC - Health - Conditions - Haemochromatosis
Haemochromatosis - or genetic haemochromatosis (GH) - is a disorder that causes the body to absorb an excessive amount of iron from the diet.
Although haemochromatosis and the potential for the condition to cause problems is present from birth, symptoms don't usually become apparent until middle age.
Haemochromatosis weakens the heart causing heart failure and may cause diabetes by damaging the pancreas, while damage to the liver increases the risk of liver cancer developing.
www.bbc.co.uk /health/conditions/haemochromatosis1.shtml   (738 words)

  
 [ GESA ] - Patient Information - List of Publications - Haemochromatosis   (Site not responding. Last check: 2007-10-21)
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.
After a diagnosis of haemochromatosis is made, all close relatives over the age of 10 years should be screened for haemochromatosis.
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.
www.gesa.org.au /consumer/publications/haemochromatosis   (1462 words)

  
 HFE   (Site not responding. Last check: 2007-10-21)
A modern definition of haemochromatosis describes it as an inherited disorder of iron metabolism, characterized by inappropriately high absorption of iron by the gastrointestinal mucosa, leading to excessive storage of iron (particularly in the liver, skin, pancreas, heart, joints and testes) and ultimately resulting in impaired organ structure and function.
Haemochromatosis can be due to mutations in a number of genes (Table 1) but in terms of prevalence and phenotype, the most important type is that due to mutations in HFE, termed Type 1 hereditary haemochromatosis (HH).
Treatment of haemochromatosis usually involves removal of excess iron by weekly therapeutic phlebotomy (i.e., removal of blood) to reduce the serum ferritin concentration and the transferrin saturation.
www.cmgs.org /BPG/Guidelines/2004/HFE.htm   (3460 words)

  
 Cardiff University - Haemochromatosis Diagnostic Tests and Their Use
Haemochromatosis is inherited in autosomal recessive fashion - two copies of the gene which lies on chromosome 6, one inherited from each parent, are required.
Clinical haemochromatosis is an uncommon condition but it is now known that the genetic change that causes the condition is common in the UK population.
In the Department of Haematology research on haemochromatosis is concerned with the study of the clinical penetrance of the haemochromatosis mutations and the significance of heterozygosity for iron status and morbidity.
www.cardiff.ac.uk /medicine/haematology/haemochromatosis   (1266 words)

  
 Guardian Unlimited | Special reports | Doctors hindered by company's gene patent
The disease, called haemochromatosis, affects up to 20,000 Britons and two common mutations in the gene known as HFE are thought to be responsible for 80-85% of cases of the illness.
Haemochromatosis, which affects disproportionately those of north European descent, causes the body to absorb too much iron from food, which in turn leads to liver damage, heart disorders, lower sex drive, and bronzed skin.
However, specialists in haemochromatosis now say it is doubtful whether the HFE gene mutations were ever a reliable indicator of whether a person would become seriously ill with the disease.
www.guardian.co.uk /genes/article/0,2763,646089,00.html   (550 words)

  
 HAPS - Education Information - Haemochromatosis   (Site not responding. Last check: 2007-10-21)
In discussing the assessment of haemochromatosis we need to evaluate firstly whether the disease is indeed present and secondly evaluate the effects of the iron overload if it does exist.
Having identified a patient with genetic haemochromatosis a liver biopsy must be considered to confirm that the liver is indeed iron loaded and to document the severity of the disease.
Haemochromatosis can lead to multi organ damage and those organs effected include the liver, pancreas, gastrointestinal tract, skin, heart, pituitary, testes and joints.
www.haps.nsw.gov.au /edrsrch/edinfo/hmochr.html   (784 words)

  
 Haemochromatosis and Diabetes
Hereditary haemochromatosis is a disorder of iron metabolism where the affected person absorbs too much iron from a normal diet.
The diabetes that occurs as a complication of haemochromatosis develops in quite a specific way: as iron accumulates in the body, it becomes toxic to the cells of internal organs, including those in the pancreas involved in making insulin.
In the early stages of haemochromatosis treatment, the HbA1C blood test can show as low or normal and is not a reliable method of measuring blood glucose control until iron levels have returned to normal.
www.diabetesaustralia.com.au /conquest/0003-haemochromatosis.htm   (416 words)

  
 HAEMOCHROMATOSIS - a patient's guide
Haemochromatosis is a genetic disorder of iron metabolism very common in those of Celtic, Anglo and Northern European descent.
More than 90% of patients with haemochromatosis are homozygotes which have two copies of this mutation, having inherited one from each parent.
Haemochromatosis is common in people of northern European origin, affecting at least one in 200.
www.medic8.com /healthguide/articles/haemachromatosis.html   (1278 words)

  
 Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular ...
Neonatal haemochromatosis transmitted as a result of maternal disease (infection) acquired during pregnancy (fig 3A).
Neonatal haemochromatosis transmitted in a manner compatible with or indicating an autosomal recessive trait (fig 3C).
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.
jmg.bmjjournals.com /cgi/content/full/38/9/599   (6750 words)

  
 Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism -- Griffiths and Cox 9 ...
Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism
In the liver, HFE is expressed predominantly in Kupffer macrophages which release iron from the breakdown of senescent erythrocytes; this release of iron appears to be accelerated in hereditary haemochromatosis, suggesting a secondary role for HFE in the regulation of systemic iron delivery.
allele is not tantamount to a diagnosis of hereditary haemochromatosis.
hmg.oxfordjournals.org /cgi/content/full/9/16/2377   (3889 words)

  
 © The Centre for Genetics Education   (Site not responding. Last check: 2007-10-21)
In people who have haemochromatosis, whether it is genetic (inherited) or associated with some other medical problem (acquired), the amount of iron in the body is much higher than usual.
The mutation causing HH is in the HFE gene located on chromosome 6, an autosome (one of the numbered chromosomes) and the effect of the mutation is "recessive" or hidden by the presence of the correct copy of the gene (see Genetics Fact Sheets 1, 2 and 3).
People who are diagnosed with haemochromatosis prior to developing liver damage, and who have blood removed frequently, have a normal life expectancy.
www.genetics.com.au /factsheet/36.htm   (1548 words)

  
 IRONZ - The New Zealand Haemochromatosis Support & Awareness Group
Haemochromatosis is a disorder of iron regulation (metabolism) in your body.
The abnormal gene is extremely common, in New Zealand 1 in 7 people of European descent are carriers and 1 in 200 people in have Haemochromatosis.
The purpose of this website is to inform people of our organisation and its aims, enable people to contact the support and awareness group, advertise our regular meetings, publish the faqs and provide links to other sites for more information on Haemochromatosis.
www.ironz.org.nz   (207 words)

  
 ExcessIron.com - Hereditary Iron Overload Information
Hereditary haemochromatosis is a remarkably common genetic disorder of iron metabolism resulting in excess iron absorption from the diet [1].
In hereditary haemochromatosis, a mutation of the HFE gene alters the folding of the HFE protein [7], preventing it from associating with the transferrin receptor, and thus disabling its role in regulating intestinal iron uptake.
By age 20, untreated homozygous hereditary haemochromatosis typically causes excess iron storage associated with an increased risk of cardiac disease and early death.
www.excessiron.com /hereditary_iron_overload.jsp   (422 words)

  
 Haemochromatosis   (Site not responding. Last check: 2007-10-21)
Haemochromatosis, also called iron overload, can result from several medical conditions, the most common of which is an inherited disorder of iron metabolism that occurs mainly in white skinned people (Caucasians), termed hereditary haemochromatosis or HH.
Approximately 1 in 10 Caucasians have one abnormal (or mutated) copy of the gene associated with hereditary haemochromatosis and are referred to as carriers.
Laboratory investigation for hereditary haemochromatosis usually begins with two blood tests: transferrin saturation and serum ferritin, which are measures of the body's iron metabolism and iron stores.
www.labtestsonline.org.uk /understanding/conditions/hemochrom.html   (404 words)

  
 eMJA: Population genetic screening for hereditary haemochromatosis
Most cases of haemochromatosis are due to homozygosity for a single mutation leading to iron overload.
However, like all diseases, haemochromatosis is defined by pathology, and a person does not have hereditary haemochromatosis unless body iron stores, as reflected by abnormal iron indices (serum ferritin and fasting transferrin saturation), are elevated.
Half of the original 16 had clinical features consistent with hereditary haemochromatosis, although the prevalence of symptoms in non-homozygotes of the same age was not presented for comparison.
www.mja.com.au /public/issues/179_10_171103/ger10460_fm-2.html   (1250 words)

  
 Health Report - 6/09/99: Haemochromatosis
Now some people have argued that because haemochromatosis is so common, the test is so simple, and treatment is very cheap, everyone in the population should be routinely screened in the same way you'd have your cholesterol or your blood pressure checked.
Interestingly, in the same edition of the journal, there is a study from Italy that shows an Italian family that I believe have the disease haemochromatosis, not the standard gene, but showed that there's obviously a genetic thing going on with the way it's transmitted through the family.
If we say that haemochromatosis is having too much iron, we can readily pick up people with too much iron, and have been able to do so for many years now.
www.abc.net.au /rn/talks/8.30/helthrpt/stories/s49783.htm   (1183 words)

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