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How is Hereditary Hemochromatosis Diagnosed?
Published: Jun 12, 2024
Early diagnosis of hereditary hemochromatosis can prevent severe health complications. Learn about the key tests used to diagnose this condition.
Initial Testing: Iron Studies
The first step in diagnosing HH is conducting iron studies, which include measuring serum iron, transferrin saturation (TSAT), and ferritin levels. High TSAT and ferritin levels suggest iron overload, prompting further investigation.
Genetic Testing for HFE Mutations
If iron overload is detected, genetic testing for HFE mutations, particularly the C282Y and H63D variants, is recommended. This test confirms the genetic predisposition to HH, especially in individuals with a family history of the condition.
Advanced Imaging: MRI
An MRI can be used to assess the extent of iron deposition in organs like the liver and heart. This noninvasive imaging helps determine the severity of iron overload and guides treatment decisions.
Frequently Asked Questions
Tests that measure serum iron, TSAT, and ferritin levels.
It confirms the presence of HFE mutations linked to HH.
An MRI is used to assess organ iron levels when ferritin is very high.
Next Steps
Early and accurate diagnosis of hereditary hemochromatosis can lead to effective management and prevention of complications.
References
- Bacon BR, Adams PC, Kowdley KV, et al. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011; 54:328.
- Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005; 352:1769.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic. Always discuss health information with your healthcare provider.
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