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Hemochromatosis -Coleen

Page history last edited by Coleen M 7 years, 8 months ago


By: Coleen Moreno



What is a Genetic Disorder?


A genetic disorder is a disease or disorder that is inherited genetically. It is also caused by abnormalities in genes or chromosomes. This means that in order for a person to get a certain genetic disorder, the parents of that person must have the disorder or has the gene for that disorder which can then be passed down to the child. Because the child has to get 1 genetic trait from each parent, if one or both parents have a genetic disease, they can potentially pass it down to their child. Depending whether or not the disease is dominant or recessive will determine if the child will be effected by the disease or just be a carrier.




What is hemochromatosis?


Hemochomatosis, also known as hereditary hemochomatosis, is a genetic disease that is inherited. In order to inherit this disease, the person has to get two defective genes from both parents, which makes this disease hereditary. Hemochomatosis is a disease in which the body absorbs too much iron from consumed food. This is also called iron-overload. The first organ that iron is stored is in the liver. When the liver has reached its maximum storage of iron, the remaining extra get transferred and accumulates to the heart, pituitary gland, pancreas, and everywhere else in the body and in other organs. Too much iron in the liver can cause it to be enlarged, cause liver failure, liver cancer, and cirrhosis (scarring of the liver which decreases the ability of the organ). If the iron in the heart build-up in the heart muscle, it can cause irregular heartbeats (arrhythmia) and heart failure which can cause shortness of breath and the swelling of ankles. This can eventually lead to death if left untreated.  


                                                                                         A chart based on what genes the offspring's will have

                                                                                         based on 2 parents with a hemochomatosis gene







Because the liver begins to store iron at birth, the symptoms may take at least 20 to 30 years before they are noticeable and distinct. During the early signs of hemochromatosis symptoms include fatigue, and swelling in the joints (arthritis), particularly in the knuckles of the middle and index fingers. In the later stages of the disease, symptoms include abdominal pain or tenderness, yellowing of the skin and eyes (jaundice), distention of the abdomen, bleeding from dilated veins in the esophagus, development of diabetes, the skin may have a bronze or grey colour, excessive hunger, thirst and frequent urination.







Because Hemochomatosis is caused by the excessive amount of iron in the body, in order to treat it, the excess iron in the body must be removed. This can be done through a process called phlebotomy. "Phlebotomy is the act of drawing or removing blood from the circulatory system through a cut (incision) or puncture in order to obtain a sample for analysis and diagnosis. Phlebotomy is also done as part of the patient's treatment for certain blood disorders (1) . " This process is also done to to people who donate blood to a blood bank.
Phlebotomy is safe and inexpensive.



                                                                                       Process of phlebotomy for people with hemochomatosis


Side Effects of Treatment


Most people after they receive a phlebotomy treatment are fine afterwards. Occasionally, there are some people who are very tired for a few hours or even a whole day. Some people also feel faint. It is important to drink lots of fluid to help with blood volume. 



Gene Therapy


Gene therapy is the process in which an individual's genes are modified and/or changed to correct abnormal genes. This is designed to treat a genetically inherited disease. Genes are made up of DNA that are used to make proteins. Gene therapy works by  implanting a new normal gene into the genome (The complete set of genetic material of an organism) and replacing the abnormal gene that carries the genetic disease. A carrier molecule called a vector which is genetically made delivers the normal gene to its targeted cell. Usually the vector is made of certain viruses to carry and deliver the gene by infecting the cell. These viruses are modified to ensure that the patient does not get infected with the virus. When the vector releases the normal gene into the cell, it begins to make the proteins as a normal gene would and it would restore the cell to normal. Gene therapy has not been used on people with hemochomatosis.



                                                                                                                   A visual on how gene therapy works











This video covers what hemochomatosis is, how it is passes on from parent to child, organs that are

affected, symptoms and treatment. There are also some other facts as well.

Watch from beginning until 5:12 for this information.












(1) http://medical-dictionary.thefreedictionary.com/phlebotomy








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