Hemochromatosis Mutations Are So Common, but How Do You Diagnose Them?

The patient actually had elevated ferritin and probably anemia caused by alcohol use disorder, which was hinted at in the history. They proceeded to get phlebotomies syncopised and then were lost to follow up because of their interactions with their interactions with the healthcare setting. The key lesson here is that although hemochromatosis mutations are so common, their actual penetrance is very low. It can be as low as one in 100.