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Old 05-21-2014
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Info Hereditary Hemochromatosis

Hey guys..
I understand all clinical aspects of primary hemochromatosis, but I can't get the concept of the pathophysiology

Ok the disease is AR and caused by HFE mutation, which leads to increased iron absorption from GI mucosa (duodenum), and consequently iron overload over years in multiple organs.

But what is the function of HFE gene protein product (without mutation)? and how does it affect iron absorption when it is mutated?

I read it several times but I didn't get the concept clearly. specially when it comes to transferrin receptors..

anybody can help me please in simple words.. Thanks alot.
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