Hereditary Hemochromatosis

Iron Absorption, Conservation and Transport in Hemochromatosis

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.

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Iron Absorption in Hemochromatosis

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Jump to section:

• Introduction
• Hereditary Hemochromatosis
• Normal Iron Absorption and Distribution
• Iron Overload Absorption and Distribution
• Iron Uptake, Preservation and Elimination
• Duodenum
• Iron Absorption and Transport by Intestinal Epithelium
• Iron Absorption and Transport by Intestinal Epithelium
• Hemochromatosis-Related Iron Accumulation
• Iron Absorption, Conservation and Transport by Hepatocyte
• Iron Absorption, Conservation and Transport in Hemochromatosis
• Effect of Hemochromatosis on Duodenal Crypt Cell
• Iron Absorption, Conservation and Transport in Hemochromatosis
• Clinical Presentation
• Clinical Presentation
• Hemochromatosis - Clinical Syndrome
• Laboratory Diagnosis: Serum Testing
• HFE Gene
• Hereditary Hemochromatosis
• Inheritance
• Genetic Testing
• Diagnostic Testing Algorithm
• Hemochromatosis - Gross Liver
• Hemochromatosis - Liver Microscopic
• Laboratory Diagnosis
• Treatment
• Summary
• Questions?