Which three gene mutations are associated with Hemochromatosis?

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Prepare for the ASCP Molecular Biology (MB) Technologist Exam. Study with flashcards and multiple-choice questions, each with hints and explanations. Get ready to succeed!

The three gene mutations associated with Hemochromatosis, particularly in the context of Hereditary Hemochromatosis type 1, are C282Y, H63D, and S65C. These mutations occur within the HFE gene, which is crucial for regulating iron absorption in the body.

C282Y is the most common mutation and is linked to a significantly increased risk of iron overload, leading to conditions such as liver cirrhosis, diabetes, and heart issues if left untreated. H63D is another mutation that has been identified in patients with milder forms of iron overload. S65C, although less common, is also recognized for its association with the disease.

These mutations result in various functional impairments of the HFE protein, disrupting its ability to interact properly with transferrin receptors, thereby leading to excessive iron accumulation. This specific context of mutations makes the first choice the correct answer. The other options do not represent documented mutations associated with Hemochromatosis.

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