Hereditary Hemochromatosis

Laboratory Diagnosis: Serum Testing

January 2009

The laboratory diagnosis involves serum testing for iron, total iron binding capacity and ferritin. In hemochromatosis, serum iron >300 µg/dL, total iron saturation > 45%, and ferritin > 1000 µg/L are common findings. Clinical guidelines suggest that workup for hemochromatosis is not indicated unless iron saturation exceeds 45%.

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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?