What Is Hemochromatosis?
3. Causes
In cases of hereditary hemochromatosis, which is the most common by far, the condition is caused by a genetic defect that is inherited from the patient’s parents. The gene responsible is usually the HFE gene, which has two common mutations. These mutations are C282Y, and H63D.
Patients who inherit only one mutated gene from their parents are unlikely to have hemochromatosis themselves.
However, the patient will carry the mutant gene and can pass it onto their children. The patient is more likely to have symptoms of hemochromatosis if they inherit two mutant genes. Even with two mutant genes, however, many patients will not show symptoms.
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