hemochromatosis
pathophysiology, complication

mutation on HFE gene on chromosome 6
→
reduced ion uptake cause enterocytes and hepatocytes to sense falsely low iron levels(impaired iron sensing), which cause two of the followings

①enterocyte increases apical expression
of DMT-1
→
☆↑iron intestinal absorption

②↓hepcidin
→
↑iron secretion into the circulation

①+②
→
↑ferritin, ↑iron, ↑transferrin saturation
→
↓TIBC

HCC is common cause of death

hematology gastrointestinal UWorld