Haemochromatosis

__**Haemochromatosis**__ Haemochromatosis (also spelled "Hemochromatosis" and also known as Genetic Haemochromatosis (GH) or Hereditary Hemochromatosis (HH)) is a genetic disorder in which one's body absorbs more iron than necessary. The excess iron is then left in different organs (mostly in the liver, but it may also be left in joints, the heart, and more). Usually, the liver needs a little bit of iron so it can supply new red blood cells with the necessary amount of iron. Too much iron can enlarge the liver though, thus damaging it. Out of all the iron overload disorders, Haemochromatosis is probably the most common and is among the most common of genetic disorders.

__**Cause and How it is Passed On**__ Haemochromatosis is caused by too much iron being absorbed from the intestines, regardless if the body needs it. The mutated gene that causes this is recessive and is called the HFE gene. It's passed on from parent(s) to offspring. The trait for Haemochromatosis is recessive, thus you need one mutated gene (carrying Haemochromatosis) from each parent to have Haemochromatosis. Despite the fact that you need two mutated genes to get Haemochromatosis, you need only one mutated gene to be considered a carrier of Haemochromatosis (the mutated gene is masked by the non-mutated one). Even if you do not have Haemochromatosis, you might be a carrier of it, meaning that your child could have Haemochromatosis although you do not. The different ways of getting Haemochromatosis are listed below...

1. If both of the parents are carriers, then the offspring will have a half chance of being carriers, a quarter chance of being normal, and a quarter chance of having Haemochromatosis. This is the most common way of getting Haemochromatosis. 2. If one parent has Haemochromatosis and the other is a carrier (about 1 out of 2,000 marriages), then the offspring will have a half chance of being carriers and a half chance of having Haemochromatosis. 3. If both parents have Haemochromatosis (about 1 out of 100,000 marriages), then all the offspring will have Haemochromatosis.

//The image above// //shows how the offspring of a mother and a father inherit Haemochromatosis. The "H" represents a dominant, normal gene and the "n" represents the recessive, mutated gene carrying Haemochromatosis.//

__**Who is Affected**__ Everyone is at risk for having Haemochromatosis, but more specifically, Caucasian men. Haemochromatosis affects roughly 1 out of 300 to about 1 out of 400 Caucasians. Halve those statistics, and you have roughly the statistics for blacks as well. Men are usually diagnosed with Haemochromatosis after/around their forties and women are usually diagnosed roughly 10 years later. The reason that men are more at risk to be affected by Haemochromatosis than women (and are usually affected younger) because women lose iron through menstruation and from using stored iron during pregnancy.

__**Effects/Symptoms**__ There are various effects from and symptoms of Haemochromatosis. Below is a list of a bunch of effects and symptoms. -Stiffness and pain in joints -Loss of energy (including tiredness and weakness) -Liver cancer/damage -Loss of sex drive -Failing heart -Shrunken testes -Skin turning a bronze color -Tissue damage -Diabetes -A higher risk of being infected by certain infectious diseases -Death (if untreated) Haemochromatosis may also result in many other diseases or make it so that people have a higher chance of getting other diseases.

//The image above shows the gene which this disorder is found in and to which vital organs the iron goes into when the body absorbs too much iron.//

Haemochromatosis can be treated through venesection theraphy or phlebotomy. What that means is that the treatment is to remove blood (usually about once a week for two years, but it depends on how serious the condition is). The reason that the removal of blood is effective in treating Haemochromatosis is because the extra iron obtained is used to replace the lost red blood cells by creating new ones. There is roughly a quarter of a gram of iron per pint of blood removed. While treatment is occurring, serum ferritum levels are watched, showing how much stored iron is still remaining. When no (or little) stored up iron is shown to be remaining, treatment should be stopped. Over time, people with Haemochromatosis will still continue to absorb iron, so about every three to four months a venesection should be done as maintenance therapy for the rest of the patient's life. If venesection therapy is successful, then iron stores should return back to their normal state. The bronzing of skin will stop (skin color will return to its normal color), tiredness and weakness and abdominal pain should lessen. Unfortunately, other effects of Haemochromatosis (arthritis and sexual dysfunction, for example) do not go away. Despite how effective venesection therapy is, it cannot cure every effect of Haemochromatosis, showing that early diagnosis is the biggest help in treating Haemochromatosis. A diet without or with low intakes of iron isn't going to help those with Haemochromatosis, but avoiding gigantic intakes of iron and vitamin C (Vitamin C makes absorbing iron and depositing iron in a few organs an easier process). The iron in red meat and offal is absorbed much more than that in other foods (grains and vegetables). Alcohol may possibly cause liver disease and iron absorption is increased because of it. On the other hand, milk products and tea, drunken/eaten with meals do the opposite of what alcohol does - they lower the amount of iron that is absorbed. Assuming that when treatment began the severity of the iron overload wasn't extremely awful, the person being treated will not have a premature death - their life expectancy remains what an average person's would be.
 * __Treatment, Diet, and Premature Death__**

//The graph (above, left) shows how Haemochromatosis progresses if left untreated; the image (above, right) shows a patient being treated for Haemochromatosis.//

__**History**__ Haemochromatosis was first mentioned in an article about diabetes by a man named Armand Trousseau in 1865. Despite this fact, another man named Friedrich Daniel von Recklinghausen was the one to realize that what Trousseau described was related to iron accumulations. Also, in 1996, the HFE gene was proven to be a major factor in Genetic Haemochromatosis.

__**Discussion Questions**__ 1. What are the three ways that someone can get (Genetic) Haemochromatosis and how common are they? 2. What are five effects/symptoms of Haemochromatosis? 3. How is Haemochromatosis treated and why is it effective? 4. What foods/drinks should people with Haemochromatosis avoid?

__**Sources**__ Maxton, David. “Haemochromatosis.” __Netdoctor.co.uk__ Date accessed – 8 May 2007  “Haemochromotosis An Iron Overload Disorder – how is it inherited?” __The Haemochromatosis Society.__ Date accessed – 8 May 2007  Hicks, Rob and Macnair, Trisha. “Haemochromatosis.” __Bbc.co.uk__ Date accessed – 9 May 2007 < [|http://www.bbc.co.uk/] > “Haemochromatosis.” __Amazines__. Date accessed – 10 May 2007 < http://www.amazines.com/ >

__//**Wiki by Adrienne and Nigel**//__