Contents
The Essential Tests for Diagnosing Hemochromatosis
Published: Apr 09, 2024
Diagnosing hereditary hemochromatosis involves a series of tests to assess iron levels and genetic markers. Discover the key tests and what they reveal.
Blood Tests: The First Step
Blood tests are crucial in diagnosing HH, measuring serum ferritin and transferrin saturation (TSAT) to assess iron levels. High levels may indicate iron overload, prompting further investigation. Regular monitoring of these tests helps catch changes early.
Genetic Testing for Confirmation
Genetic testing identifies mutations in the HFE gene, confirming a diagnosis of HH. The most common mutations are C282Y and H63D. This test is particularly important for family members of those diagnosed with HH.
Imaging and Biopsy
For a detailed assessment, MRI or liver biopsy may be used to evaluate organ iron deposition. These tests help determine the extent of iron accumulation and guide treatment decisions. Biopsies are more invasive and are typically reserved for complex cases.
Frequently Asked Questions
Blood tests, genetic testing, and imaging are key.
They confirm the presence of HFE mutations.
No, it's reserved for complex cases.
They measure serum ferritin and TSAT levels.
Wrapping Up
Comprehensive testing is essential for accurate diagnosis and management of hemochromatosis.
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 P, Altes A, Brissot P, et al. Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype. Hepatol Int 2018; 12:83.
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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