Difference between revisions of "Hemochromatosis"

From Bioinformatikpedia
Line 1: Line 1:
  +
'''''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.
 
'''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.

Revision as of 23:47, 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.


Phenotype

Biochemical disease mechanism

Iron Metabolism

Iron is only able to enter the human body in the small intestines.

Genetics

Hemochromatosis is

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