The Essential Tests for Diagnosing Hemochromatosis

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

Key Takeaways

Comprehensive testing is essential for accurate diagnosis and management of hemochromatosis.

Related Articles

• Could Your Diet Help Manage Hemochromatosis?
• What is Hereditary Hemochromatosis and How Does it Affect You?
• Preventing Iron Overload: Steps to Manage Hemochromatosis
• Effective Treatments for Managing Hemochromatosis

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