Hemochromatosis is an autosomal recessive disease and a loss of the HFE gene, located on chromosome 6.
Presents with increased intestinal absorption of iron leading to increased ferritin, increased iron, and a decreased TIBC (or increased transferrin saturation).
Classic triad of cirrhosis, diabetes mellitus, and skin pigmentation ("bronze diabetes"). It can also cause restrictive cardiomyopathy (classic) or dilated cardiomyopathy (reversible).
submitted by โshak360(19)
Hemochromatosis is an autosomal recessive disease and a loss of the HFE gene, located on chromosome 6.
Presents with increased intestinal absorption of iron leading to increased ferritin, increased iron, and a decreased TIBC (or increased transferrin saturation).
Classic triad of cirrhosis, diabetes mellitus, and skin pigmentation ("bronze diabetes"). It can also cause restrictive cardiomyopathy (classic) or dilated cardiomyopathy (reversible).