Haemochromatosis

Haemochromatosis

=**__Haemochromatosis or Haemosiderosis__ **=

** __IRON OVERLOAD__ **
 Although diabetes, impotence, and liver cancer may seem unrelated, they can all be consequences of a common inherited disorder called hemochromatosis, an iron overload disease. Few people have even heard of hemochromatosis, even though it is estimated to affect 1.5 million Americans, and probably accounts for 15 percent of the cases of adult diabetes.

 Hemochromatosis is a disorder that causes the body to absorb excess iron from food. Since there is no way for the body to get rid of iron other than bleeding or shedding of skin and intestinal cells, people with hemochromatosis have to store the excess iron in cells of the liver, heart, pancreas, and other organs.



** __Micrograph of__ ** __haemosiderosis__ ** __.__ **

** __Liver__ **



** __HealthyLiver Biopsy__ **

 Our bodies require a small amount of iron every day, but large amounts of iron can damage our organs. If untreated, or not diagnosed early enough, hemochromatosis can lead to:


 *  Diabetes  due to pancreatic islet cell failure
 *  Joint pain, Arthritis (iron deposition in joints)
 *  Abnormal heart rhythms
 *  Cardiomyopathy <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> ,Heart failure
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Cirrhosis of the liver, liver failure, or (rarely) liver cancer
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Impotence or decreased sex drive in men; early menopause in women
 * <span style="color: #000000; font-family: Times New Roman,serif; font-size: 14.6667px;"> Testicular failure
 * <span style="color: #000000; font-family: Times New Roman,serif; font-size: 14.6667px;"> Tanning of the skin

<span style="font-family: Arial,Helvetica,sans-serif;"> A liver biopsy is the only test that can tell whether cirrhosis is present, which is the only complication that affects the lifespan of someone with hemochromatosis, since it increases the risk for liver cancer. A liver biopsy should be recommended for anyone with hemochromatosis who is also:


 * <span style="font-family: Arial,Helvetica,sans-serif;"> Over 40 years old
 * <span style="font-family: Arial,Helvetica,sans-serif;"> Has a ferritin level over 1000 ug/L, or
 * <span style="font-family: Arial,Helvetica,sans-serif;"> Has abnormal liver function test results.


 * **<span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Description ** ||  || **<span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Mutation ** ||
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Haemochromatosis type 1: "classical" haemochromatosis ||  || <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> HFE ||
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Haemochromatosis type 2A: juvenile haemochromatosis ||  || <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Haemojuvelin ("HJV", also known as RGMc and HFE2) ||
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Haemochromatosis type 2B: juvenile haemochromatosis ||  || <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> hepcidin antimicrobial peptide ( //<span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> HAMP // <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> ) or HFE2B ||
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Haemochromatosis type 3 ||  || <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> transferrin receptor-2 (TFR2 or HFE3) ||
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Haemochromatosis type 4/ ||  || <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> ferroportin (SLC11A3/SLC40A1) ||

<span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Historically, the term haemochromatosis was initially used to refer to what is now more specifically called haemochromatosis type 1. Currently, haemochromatosis (without further specification) is defined as iron overload with a hereditary/primary cause or originating from a metabolic disorder. This hereditary disorder is most often found in patients with European ancestry. The gene responsible for the HFE gene that is located on chromosome 6; the majority of hereditary haemochromatosis patients have mutations in this HFE gene. Hereditary haemochromatosis is characterized by an accelerated rate of intestinal iron absorption and progressive iron deposition in various tissues.



Explain the  benefits  and limitations  of your genetic disease, these may include the identification process or how gene therapy and genetic engineering is being used. Discuss how social, economical, cultural and ethical issues are associated with your disease/syndrome.

<span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> If you were to have this disease however, the likelihood of you having Iron deficiency anemia is almost 0%. Culturally there is little to say about the disease but socially, you may be deterred from eating a certain type of food with height iron %. Economically, the cost of the test to find this disease is pretty steep. MRI cost can range between $400 to $3,500 depending upon which MRI procedure is performed. For example the area of the body were the MRI is taken from. A head MRI cost much more than a shoulder MRI for example. Their is very little to say about socail and cultural aspects of this disease becuase no one thinks poorly of having a gene error. Althought European caucasians are more likely to have the mutation you may want to be more aware of people who are more likley to have this. Since this disease has almost no danger treating there is not much to speak of ethicaly beside the fact that some way see the fact that people are tampering with natural proceses. Treating this disease is going against the natural order of things.


 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> __Symptoms of Haemosiderosis__ **

<span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Haemochromatosis may present with the following early clinical syndromes:


 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Weakness
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Fatigue
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Abdominal pain
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> General muscle aches
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Loss of sex drive
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Impotence
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Cessation of monthly menstrual cycles
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Joint pain in the fingers
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Shortness of breath on exertion
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Increased skin pigmentation (a bronze color)
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Loss of body hair


 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> __Causes Of Disease__ **


 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Haemosiderosis is haemochromatosis caused by excessive blood transfusions, that is, haemosiderosis is a form of secondary haemochromatosis.
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Haemosiderosis is haemosiderin deposition within cells, while haemochromatosis is haemosiderin within cells **<span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> and ** <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> interstitium.
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Haemosiderosis is iron overload that does not cause tissue damage, while haemochromatosis does.
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Haemosiderosis is arbitrarily differentiated from haemochromatosis by the reversible nature of the iron accumulation in the reticuloendothelial system
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> The causes can be distinguished between primary cases (hereditary or genetically determined) and less frequent secondary cases (acquired during life)
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> People of Celtic (Irish, Scottish, Welsh, Cornish, Breton etc) origin have a particularly high incidence of whom about 10% are carriers of the gene and 1% sufferers from the condition.


 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> __Treatments__ **


 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> Routine treatment in an otherwise-healthy person consists of regularly scheduled phlebotomies (bloodletting). When first diagnosed, the phlebotomies may be fairly frequent, perhaps as often as once a week, until iron levels can be brought to within normal range. Once iron and other markers are within the normal range, phlebotomies may be scheduled every other month or every three months depending upon the patient's rate of iron loading.
 * <span style="font-family: Times New Roman,serif; font-size: 14.6667px;"> For those unable to tolerate routine blood draws, there is a chelating agent available for use. The drug Deferoxamine binds with iron in the bloodstream and enhances its elimination via urine and faeces. Typical treatment for chronic iron requires subcutaneous injection over a period of 8–12 hours daily. Two newer iron chelating drugs that are licensed for use in patients receiving regular blood transfusions to treat thalassaemia (and, thus, who develop iron overload as a result) are deferasirox and deferiprone.



<span style="color: #000000; display: block; font-family: 'Times New Roman',serif; font-size: 14.6667px; text-align: center; text-decoration: none;">Works Cited

<span style="color: #000000; font-family: Times New Roman,serif; font-size: 14.6667px; text-decoration: none;"> American Hemochromatosis Society, Inc., et al. National Digestive Diseases Information Clearinghouse (NDDIC). N.p., n.d. Web. 12 Mar. 2012. < [| http://digestive.niddk.nih.gov/] ​ddiseases/​pubs/​ hemochromatosis/>.

<span style="color: #000000; font-family: Times New Roman,serif; font-size: 14.6667px; text-decoration: none;"> DrTango, Inc. Hemocromatosis. American Healthcare commison, n.d. Web. 12 Mar. 2012. < [| http://www.nlm.nih.gov/] ​medlineplus/​spanish/​ency/​article/​ 000327.htm>.

<span style="color: #000000; font-family: Times New Roman,serif; font-size: 14.6667px; text-decoration: none;"> Salonen, JT, Tuomainen, T-P, and Kontula, K., Edwards, CQ, and Powell, LW, “ Hereditary Hemochromatosis What Is Hemochromatosis?” GeneticHealth. N.p., n.d. Web. 12 Mar. 2012. < [| http://www.genetichealth.com/] ​ hcrom_what_is_hemochromatosis.shtml>.