Hereditary Hemochromatosis
An Algorithmic Approach to Diagnosis
Hereditary Hemochromatosis
January 2009
Hereditary hemochromatosis is associated with alterations in the HFE protein, identified by assessing the DNA sequences responsible for coding of the HFE protein changes of C282Y or H63D. More than 85% of patients with clinical hereditary hemochromatosis are either homozygous for the cysteine to tyrosine amino acid change or are compound heterozygous for both mutations at 282 and 63. Individuals who are heterozygous for the 282 or 63 amino acid changes are not at risk for developing hereditary hemochromatosis.
Hereditary Hemochromatosis |
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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