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Hereditary Hemochromatosis

An Algorithmic Approach to Diagnosis


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Iron Absorption, Conservation and Transport in Hemochromatosis

Slide 11

January 2009

In hemochromatosis, the membrane bound HFE protein is altered in a way that inhibits the formation of the beta-2 microglobulin HFE transferrin receptor-1 complex. In hemochromatosis, the primary mode of iron uptake is through transferrin receptor-2 which still facilitates the endocytosis of iron. However, the absence of the beta-2 microglobulin HFE transferrin receptor-1 complex in the endocyte results in little or no release of IL-2 resulting in diminished translation and formation of hepciden. In this process, however, ceruloplasmin and transferrin synthesis remain intact.

Iron Absorption in Hemochromatosis


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