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Hereditary Hemochromatosis

An Algorithmic Approach to Diagnosis


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Diagnostic Testing Algorithm

Slide 22

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.

Diagnostic Testing Algorithm


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