Hemochromatosis

Overview

Hereditary Hemochromatosis is when your body absorbs too much iron. Usually, most humans without HH are able to extract only the iron they need.

How it is Inherited

Hereditary Hemochromatosis is recessive. This means to get this mutated gene, both of your parents have to give you a recessive gene and this trait can be found on chromosome 6. Type 1 of the genetic disorder hemochromatosis is the one of the more common genetic disorders people can get in the United States. Other types of hemochromatosis are rare. H

Current Research

Rennes University Hospital does research on hemochromatosis patients, so the disease won't evolve to potential life-threatening consequences. The tests done for research include an electrocadiogram and blood samples.

Symptoms

Although there are tests that can be done to check for this disease, it is difficult to be diagnosed by only looking at the symptoms while they are very similar to diabetes and other diseases. Some of the early symptoms include joint pain, abdominal pain, fatigue and weakness. If some complications occur, and the patient may appear bronze or grey due to the deposits of iron in the skin.

Tests and Treatments

There are many tests that can be done to see if someone has this disease. These tests can consist of liver function tests, an MRI, a gene mutation test, or removing liver tissue to sample. The disorder can be treated by removing the patients blood. This is know as phlebotomy, and the patient undergoes this frequently as they first begin the treatment. The treatment helps remove some of the excess iron.

Fair Use Statement

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Citations

Works Cited

“Hemochromatosis.” Clinical Trials. NLM, 21 Mar. 2016. Web. 7 Apr. 2016. <https://clinicaltrials.gov/ct2/show/NCT02099214?term=hemochromatosis&rank=1>.

“Hemochromatosis.” Gale Encyclopedia. Cengage Learning, n.d. Web. 6 Apr. 2016. <http://ic.galegroup.com/ic/scic/ReferenceDetailsPage/ReferenceDetailsWindow?failOverType=&query=&prodId=SCIC&windowstate=normal&contentModules=&display-query=&mode=view&displayGroupName=Reference&limiter=&currPage=&disableHighlighting=false&displayGroups=&sortBy=&search_within_results=&p=SCIC&action=e&catId=&activityType=&scanId=&documentId=GALE%7CZBSYCF114847205&source=Bookmark&u=down87562&jsid=635406f50f65278cdc1b32a5698cb192>.

“Hemochromatosis.” Mayo Clinic. Mayo Foundation for Medical Education and Research, 22 Dec. 2015. Web. 7 Apr. 2016. <http://www.mayoclinic.org/diseases-conditions/hemochromatosis/symptoms-causes/dxc-20167290>.

“Hereditary Hemochromatosis.” Genetic Home Reference. N.p., 28 Mar. 2016. Web. 5 Apr. 2016. <https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis>.

“Learning About Hereditary Hemochromatosis.” National Human Genome Research Institute. N.p., 23 Oct. 2012. Web. 4 Apr. 2016. <https://www.genome.gov/10001214>.