What is the primary consequence of the C282Y mutation related to iron accumulation?

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The C282Y mutation is associated with hereditary hemochromatosis, a condition leading to excessive iron absorption in the body. This mutation occurs in the HFE gene, which plays a crucial role in iron regulation. When the C282Y mutation is present, the body's ability to sense and regulate iron levels is impaired. As a result, individuals with this mutation absorb more iron from their diet than normal.

This excess iron accumulates in various organs, leading to potential damage and complications over time, such as liver disease, diabetes, and heart problems. In contrast, the other options, such as decreased iron absorption, normal iron levels, or reduced hemoglobin levels, do not accurately reflect the physiological impact of the C282Y mutation. The key consequence is indeed the increased iron absorption, which distinguishes how this genetic mutation alters iron metabolism.

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