Understanding Lab Tests for Hemochromatosis
Written by Private MD Labs Medical Writing Team • Last Updated: September 8, 2025
Hemochromatosis is a genetic disorder that causes the body to absorb too much iron from food. This excess iron accumulates in organs like the liver, heart, and pancreas, potentially leading to serious complications. Blood tests are the primary diagnostic tools for detecting this condition.
Top Recommended Test
Iron, Serum w/ TIBC
This comprehensive iron study measures serum iron levels, total iron-binding capacity (TIBC), and transferrin saturation percentage. In hemochromatosis, iron levels are typically high, TIBC may be low, and transferrin saturation is often elevated above 45%, making this a crucial diagnostic test.
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How Blood Tests Diagnose Hemochromatosis
Because hemochromatosis is an internal metabolic disorder, blood tests are essential for diagnosis. These tests measure iron levels, iron storage, and assess potential organ damage. Early detection through blood testing is crucial for preventing complications and managing treatment effectively.
Other Relevant Tests
Iron storage test
This test measures ferritin, a protein that stores iron in the body. Elevated ferritin levels are often the first indicator of hemochromatosis, as they reflect excessive iron storage in organs. This is typically one of the primary screening tests for the condition.
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Iron, Serum
This test measures the amount of iron circulating in the blood. People with hemochromatosis typically have elevated serum iron levels due to excessive iron absorption from their diet, making this an important diagnostic marker.
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Transferrin
Transferrin is the protein that transports iron in the blood. In hemochromatosis, transferrin levels may be lower than normal because the body's iron transport system becomes overwhelmed by excess iron, providing additional diagnostic information.
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Aspartate Aminotransferase (AST/SGOT)
This liver enzyme test helps assess liver damage that can result from iron accumulation in hemochromatosis. Elevated AST levels may indicate liver injury caused by iron overload, helping monitor the condition's impact on liver health.
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Alanine Aminotransferase ALT (formally known as SGPT)
This liver enzyme test detects liver damage from iron accumulation. Elevated ALT levels in conjunction with abnormal iron studies can indicate liver injury from hemochromatosis, making it important for both diagnosis and monitoring organ damage.
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Understanding Your Test Results
Hemochromatosis diagnosis typically involves multiple abnormal test results working together. Key indicators include elevated ferritin levels, high transferrin saturation (usually above 45%), increased serum iron, and potentially elevated liver enzymes. Your healthcare provider will interpret these results in combination with your symptoms and family history.
Important Considerations
The information here is for educational purposes only and is not a substitute for professional medical advice. Always consult with a healthcare provider for diagnosis and treatment. Early detection and treatment of hemochromatosis can prevent serious complications and improve long-term outcomes.
