Hereditary+Hemochromatosis

toc = Hereditary Hemochromatosis = By: Becca

Background Information:
Hereditary hemochromatosis is an inherited disorder of iron metabolism which causes the body to store too much iron. Iron levels build up to a toxic level because iron cannot be expelled from the body. People with the disorder tend to have double the amounts of iron needed. Hemochromatosis is common in Northern European ancestry and Caucasians. Excess iron is absorbed in tissues and organs and the normal functions are disrupted, leading to organ failure and sometimes death. The most common organs and tissues attacked are the liver, adrenal glands, heart, skin, gonads, joints, and the pancreas. It is one of the most common inherited diseases of the Northern European descent, affecting 1 in every 200-300 people. It is autosomal recessive disorder that is more common in males than in females. It is named for causing iron (hemo) colored (chroma) skin.

Molecular Basis:
Hereditary hemochromatosis is caused by a mutation on the sixth chromosome's shorter arm known as the C282Y mutation on the HFE. It can also be caused by the H36D mutation. Recent discoveries have found the S65C and C282S mutations on the HFE gene. Basically a protein is bonding where it shouldn't which prevents more bonding from occuring which prevents iron from being able to move through the cell membrane. "Binding of HFE protein to TfR. (A), wild-type HFE protein binds to TfR and decreases the binding affinity of TfR for iron (Fe)-rich Tf. The C282Y mutation prevents association of HFE and β2m (β2). HFE is not transported to the cell surface and does not affect TfR:Tf-Fe binding. (B), wild-type HFE protein binds to TfR at or near the Tf-binding site and competitively inhibits the TfR:Tf-Fe interaction. In proteins with C282Y mutations, HFE is not transported to the cell surface and does not affect TfR:Tf-Fe binding. (C), wild-type HFE binds to TfR and limits iron uptake by preventing complete release of iron from the HFE:TfR:Tf-Fe complex in the endosome. In proteins with C282Y mutations, HFE does not affect iron release from the TfR:Tf-Fe complex." (Clinical Chemistry)

Symptoms:
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 * muscle aches
 * joint pain
 * fatigue
 * depression
 * memory problems
 * prone to bacterial infections
 * abnormally large liver
 * loss of body hair
 * early menopause
 * heart problems
 * diabetes
 * stomach pain
 * nausea
 * tan skin

Work Cited:
@http://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis

@http://www.clinchem.org/content/47/7/1147.full

@http://www.clinchem.org/content/47/7/1147/F1.expansion.html

http://pphsapbio.wikispaces.com/Hereditary+Hemochromatosis