Hereditary Hemochromatosis
An Algorithmic Approach to Diagnosis
HFE Gene
January 2009
When evaluation of the hemochromatosis gene is indicated, the HFE gene locus on chromosome 6 is examined. Mutations of the gene for HFE Protein associated with hemochromatosis produce amino acid changes at position 282 where a cysteine is converted to tyrosine and at position 63 where a histidine is converted to asparagine. These are the two most common amino acid changes associated with hemochromatosis.
HFE Gene |
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?
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