Difference between revisions of "Hemochromatosis 2011"

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'''Hemochromatosis type 1'''<ref name="pmid16493621">{{cite journal |author=Franchini M |title=Hereditary iron overload: update on pathophysiology, diagnosis, and treatment |journal=Am. J. Hematol. |volume=81 |issue=3 |pages=202–9 |year=2006 |month=March |pmid=16493621 |doi=10.1002/ajh.20493 |url=}}</ref> (or '''HFE hereditary hemochromatosis''',<ref name="pmid18199861">{{cite journal |author=Allen KJ, Gurrin LC, Constantine CC, ''et al.'' |title=Iron-overload-related disease in HFE hereditary hemochromatosis |journal=N. Engl. J. Med. |volume=358 |issue=3 |pages=221–30 |year=2008 |month=January |pmid=18199861 |doi=10.1056/NEJMoa073286 |url=http://content.nejm.org/cgi/pmidlookup?view=short&pmid=18199861&promo=ONFLNS19}}</ref> or '''HFE-related hereditary haemochromatosis'''<ref name="pmid18079564">{{cite journal |author=Jacobs EM, Verbeek AL, Kreeftenberg HG, ''et al.'' |title=Changing aspects of HFE-related hereditary haemochromatosis and endeavours to early diagnosis |journal=Neth J Med |volume=65 |issue=11 |pages=419–24 |year=2007 |month=December |pmid=18079564 |doi= |url=http://www.zuidencomm.nl/njm/getarticle.php?v=65&i=11&p=419}}</ref>) is a [[hereditary disease]] characterized by excessive absorption of [[Human iron metabolism|dietary iron]] resulting in a pathological increase in total body iron stores. [[Human]]s, like most [[animal]]s, have no means to excrete excess iron.<ref name="urlThe interaction of iron and erythropoietin">{{cite web |url=http://sickle.bwh.harvard.edu/iron_epo.html |title=The interaction of iron and erythropoietin |work= |accessdate=}}</ref> Excess iron accumulates in tissues and organs disrupting their normal function. The most susceptible organs include the [[liver]], [[adrenal glands]], [[heart]], [[skin]], [[gonads]], [[joints]], and the [[pancreas]]; patients can present with [[cirrhosis]], [[polyarthropathy]], adrenal insufficiency, heart failure or [[diabetes]].<ref name="Iron Overload and Hemochromatosis">[http://www.cdc.gov/ncbddd/hemochromatosis/ Iron Overload and Hemochromatosis] Centers for Disease Control and Prevention</ref> The hereditary form of the disease is most common among those of Northern European ancestry, in particular those of Celtic descent.<ref>{{cite web |title=Celtic Curse |url=http://live.psu.edu/index.php?sec=vs&story=10913&pf=1 }}</ref>
  
   
   

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Hemochromatosis is a hereditary autosomal recessiv genetic disorder caused by a mutation of the HFE-Gen.

Phenotype

Hemochromatosis causes different symptoms like skin discoloration and liver cirrhosis.

HEF-Gen

Source: http://www.pdb.org/pdb/explore/explore.do?structureId=1A6Z

The HFE-Gen alleviate the binding of transferrin which is the carrier protein for iron in the blood cyclus. With a mutated HFE-Gen, the intestines interpret a strong transferrin signal as an deficient in iron. Therefore the cells start to import iron, which leads to an iron overload.

Mutation

assigned Sequence 1

under construction 'till sequences are assingned

assigned Sequence 2

under construction 'till sequences are assingned

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