Pharmacology Weekly

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Pharmacogenetics Newsletter

Volume 2, Issue 31, 08/17/2010

Question

Why are patients with genetic defects to the genes for transferrin receptor-2 (Tfr2) and ferroportin 1 at an increased risk for developing iron toxicity or hemochromatosis with iron supplements?

Answer

This is the last newsletter in this series describing the impact that genetic variations to proteins involved in the regulation of iron absorption can have in patients receiving or taking oral iron supplements.  The previous 4 newsletter publications dedicated to the topic of pharmacogenetics provided a review of the common genetic defects or polymorphisms associated with an increased risk for the development of hemochromatosis and the mechanisms of iron toxicity, specifically in patients with Hereditary Hemochromatosis, Hemochromatosis Type 2A and Type 2B.  As one might expect, there are a number of genetic influences that can predispose certain patients to an increased risk of iron overload/toxicity.  This newsletter publication will focus on the potential mechanisms involved in patients with Hemochromatosis Types 3 and 4. 

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