Difference between revisions of "Hemochromatosis"
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== Phenotype == |
== Phenotype == |
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| + | |||
| + | Patients |
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== Biochemical disease mechanism == |
== Biochemical disease mechanism == |
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| + | The basis for hemocromatosis is a hepcidin deficiency. Hepcidin is a protein that is responsible for the downregulation of iron entry into the bloodstream. |
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| + | Patients do not suffer from a perturbance of the iron metabolism, which works normal, but from an increased iron uptake into the blood. |
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=== Iron Metabolism === |
=== Iron Metabolism === |
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== Genetics == |
== Genetics == |
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| + | Hemochromatosis is caused by a mutation in the HFE gene, which is one of several genes regulating the hepcidin synthesis |
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| − | Hemochromatosis is |
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== Mutations == |
== Mutations == |
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Revision as of 22:57, 20 April 2013
Work in progress!
Hemochromatosis is a hereditary disorder that leads to an iron overload in organs due to an increased iron absorption from food. It is caused by a point mutation in the HFE gene.
Contents
Phenotype
Patients
Biochemical disease mechanism
The basis for hemocromatosis is a hepcidin deficiency. Hepcidin is a protein that is responsible for the downregulation of iron entry into the bloodstream. Patients do not suffer from a perturbance of the iron metabolism, which works normal, but from an increased iron uptake into the blood.
Iron Metabolism
Iron is only able to enter the human body in the small intestines.
Genetics
Hemochromatosis is caused by a mutation in the HFE gene, which is one of several genes regulating the hepcidin synthesis
Mutations
Reference sequence
Neutral mutations
Disease causing mutations
Treatment
Since iron can only be removed from the system by blood loss, treatment is complicated. Possible treatment is only used to reduce the iron content in the body. A low iron diet
