Hemochromatosis

Hemochromatosis

Iron Overload

Inheritance- Mendelian trait- Autosomal recessive- HFE gene (6p22.2)- C282Y and H63D- Controls the membrane protein hepcidin, which regulates iron absorption

What Is It?- Genetic disease of iron absorption- Too much iron is absorbed- Caused by a genetic mutation

What Can Happen?- Too much iron stored in organs- Damage to heart, liver, pancreas- May cause cirrhosis, arrhythmias, diabetes, heart failure, and cancer

What Does it Look Like?- Appears later in life- Joint pain, fatigue, weakness, skin discoloration, loss of libido, and diabetes

Testing and Treating- Tested for with blood tests, MRIs, liver testing, and genetic testing- Treated with routine phlebotomies or chelation medication

Who Gets It?- Most common genetic disease in Caucasians- Not always apparent- 1:100 are affected- 1:8 to 1:10 are carriers- More pronounced effects in men

http://www.pathologieutrecht.nl/diagnostics/histopathology.htm

https://cornellbiochem.wikispaces.com/Hereditary+Hemochromatosis

http://imgarcade.com/1/popeye-black-and-white/

Works Cited"FAQs about Hemochromatosis/Iron Overload." American Hemochromatosis Society. American Hemochromatosis Society, n.d. Web. 17 Oct. 2014. .Ganz, T., and E. Nemeth. "Hepcidin and Iron Homeostasis." PubMed. National Institutes of Health, 2012. Web. 22 Oct. 2014. . "Hemochromatosis." Mayo Clinic. Mayo Foundation for Medical Education and Research, 13 Dec. 2012. Web. 19 Oct. 2014. ."HFE (Gene)." Wikipedia, the Free Encyclopedia. Wikipedia Foundation, 12 May 2014. Web. 19 Oct. 2014. ."Learning about Hereditary Hemochromatosis." National Human Genome Research Institute. National Institutes of Health, 23 Oct. 2012. Web. 20 Oct. 2014. .