Difference between revisions of "Hemochromatosis 2011"
From Bioinformatikpedia
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| − | Hemochromatosis is a hereditary autosomal recessiv genetic disorder caused by a mutation of the HFE-Gen. |
+ | Hemochromatosis is a hereditary autosomal recessiv genetic disorder caused by a mutation of the HFE-Gen. It was first describted by [http://en.wikipedia.org/wiki/Armand_Trousseau Armand Trousseau] in 1865 in a report about [http://en.wikipedia.org/wiki/Diabetes_mellitus diabetes]. |
== Phenotype == |
== Phenotype == |
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Revision as of 11:34, 15 May 2011
Hemochromatosis is a hereditary autosomal recessiv genetic disorder caused by a mutation of the HFE-Gen. It was first describted by Armand Trousseau in 1865 in a report about diabetes.
Phenotype
Hemochromatosis causes different symptoms like skin discoloration and liver cirrhosis.
HEF-Gen
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
