Hereditary Hemochromatosis

Inheritance

January 2009

Alteration in the HFE Protein gene is an autosomal recessive process with carrier frequency of 1 in 10 in individuals of northern European decent. Approximately 0.4% of people with European ancestry carry the alleles associated with hereditary hemochromatosis, and 75% of these individuals will develop iron overload. Among these patients, 30% of males and 70% of the women will develop liver disease. 2-5% will develop diabetes.

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Inheritance

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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?