Pharmacogenetics Newsletter

Volume 2, Issue 15, 04/13/2010

Question

What genetic defects can predispose patients receiving iron (Fe) supplements to develop hemochromatosis (iron overload)?

Answer

Iron (Fe) is very important in order to maintain aerobic respiration by the cells in the human body.  Without iron, insufficient hemoglobin synthesis occurs and thereby reduces the oxygen carrying capacity of the blood.  Due to its physiologic importance, the human body has numerous effective mechanisms to hold on to iron.  While this is helpful at preventing the depletion of total body iron stores, there is no efficient elimination pathway once iron gets into the body (this is especially true for males).  As such, the body can only influence total iron stores at the level of absorption from the gastrointestinal tract.  Unfortunately, if the body were to obtain too much iron it could be toxic to numerous organs in the body resulting in a condition called, hemochromatosis.(1,2) 

It is now known that certain patients are at greater risk of absorbing too much oral iron from the gastrointestinal tract thereby putting them at an increased risk for liver damage, pancreatic damage leading to diabetes mellitus, cardiomyopathies, arthritis and hypogonadism.(2)  The majority of cases of hemochromatosis are due to known defects to...

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