Hereditary Hemochromatosis

Diagnostic Testing Algorithm

January 2009

A diagnostic testing algorithm was proposed by Dr. David Brandhagen in 1999 which has become the standard of practice. This algorithm starts with a clinical suspicion of hemochromatosis which is followed by a transferrin iron saturation evaluation. If total iron binding capacity is less than 45%, the patient should not be considered for further workup of hereditary hemochromatosis. If TIBC is elevated, repeat transferrin and ferritin evaluation should be performed. If these are both elevated, causes of secondary iron overload such as viral hepatitis should be considered. However, if no secondary cause is identified, then evaluation for the HFE gene is indicated. If HFE gene testing is positive, the patient has hereditary hemochromatosis, and phlebotomy treatment should be started. However, in approximately 20% of patients with hereditary hemochromatosis, the HFE gene test will be negative. In that case, liver biopsy, histology, and hepatic iron concentration should be performed. If these findings are consistent with hemochromatosis, phlebotomy is indicated.

< Previous Slide

Diagnostic Testing Algorithm

Next Slide >

 

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?