Hemochromatosis is a genetic disorder that causes the body to absorb excessive iron from food, leading to dangerous iron accumulation in organs like the liver, heart, and pancreas. It is caused by mutations in the HFE gene, most commonly the C282Y and H63D variants, which disrupt normal iron regulation. The Iron, Serum with TIBC test is the most important test for diagnosis because it measures transferrin saturation, which is typically elevated above 45% in hemochromatosis.
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Hemochromatosis is caused by genetic mutations in the HFE gene, most commonly the C282Y and H63D variants. These mutations disrupt the body's ability to regulate iron absorption in the intestines, causing you to absorb far more iron from food than normal. When you inherit these faulty genes from both parents, your body continuously stores excess iron in organs like the liver, heart, and pancreas, which can eventually damage these vital organs over time.
The Iron, Serum with TIBC test is the most important test for hemochromatosis because it measures transferrin saturation, which is the key diagnostic marker for this condition. In hemochromatosis, transferrin saturation is typically elevated above 45% because your body is absorbing and transporting excessive amounts of iron. This comprehensive test also measures serum iron levels and total iron-binding capacity, giving a complete picture of your iron metabolism. The Ferritin, Serum test is also essential as it measures your body's iron storage levels, and elevated ferritin is often the first sign of iron overload that doctors look for when screening for hemochromatosis.
You should get tested if you have a family history of hemochromatosis or if you experience symptoms like chronic fatigue, joint pain, abdominal pain, or unexplained liver problems. Testing is especially important if you notice bronze or gray skin discoloration, heart problems, diabetes symptoms, or loss of sex drive, as these can indicate organ damage from iron accumulation. Early testing is crucial because hemochromatosis can be managed effectively when caught early, but waiting until symptoms appear may mean organ damage has already begun.
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What this means
Your serum iron levels are below the optimal range, which may explain why you're feeling tired or weak. Low iron means your blood isn't carrying as much oxygen to your tissues as it should, which directly impacts your energy levels and overall vitality.
Recommended actions
Include more iron-rich foods like lean red meat, chicken, fish, beans, and fortified cereals in your diet
Pair iron-rich meals with vitamin C sources like orange juice, strawberries, or bell peppers to boost absorption
Avoid drinking coffee or tea with meals as they can reduce iron absorption by up to 60 percent
Consider retesting in 2-3 months after making dietary changes or starting supplements
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