4 doctors weighed in:

How is a diagnosis for iron overload/hemochromatosis confirmed?

4 doctors weighed in
Dr. Jason Hemming
Internal Medicine - Gastroenterology
2 doctors agree

In brief: Labs and Bx

Labs that include ferritin and transferrin saturation.
All patients being evaluated for hhc should have c282y and h63d mutation analysis. This may help in determine risk for hhc but is not always diagnostic by itself. Lastly a liver biopsy with a iron index or MRI may help to confirm suspected cases.

In brief: Labs and Bx

Labs that include ferritin and transferrin saturation.
All patients being evaluated for hhc should have c282y and h63d mutation analysis. This may help in determine risk for hhc but is not always diagnostic by itself. Lastly a liver biopsy with a iron index or MRI may help to confirm suspected cases.
Dr. Jason Hemming
Dr. Jason Hemming
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Dr. Charles Cattano
Internal Medicine - Gastroenterology

In brief: Liver biopsy

Although blood testing (measurement of iron studies and hfe assay) combined with family history can be very suggestive, a liver biopsy with iron staining clinches a diagnosis of hemochromatosis and distinguishes it from other iron overload diseases.

In brief: Liver biopsy

Although blood testing (measurement of iron studies and hfe assay) combined with family history can be very suggestive, a liver biopsy with iron staining clinches a diagnosis of hemochromatosis and distinguishes it from other iron overload diseases.
Dr. Charles Cattano
Dr. Charles Cattano
Thank
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