Which mutation is found in 8% of cases without either C282Y or H63D mutations?

The S65T mutation is specifically linked to cases of hereditary hemochromatosis that do not involve the more commonly known mutations, C282Y or H63D. In instances where these two mutations, which are the most prevalent and have been heavily studied, are absent, the S65T mutation has been identified in a smaller percentage of the population, approximately 8%.

This mutation contributes to the condition by affecting iron metabolism but is less significant than C282Y or H63D. The presence of the S65T mutation suggests an alternative genetic cause for increased iron absorption in individuals who do not carry the more common mutations associated with hereditary hemochromatosis. Understanding the impact of S65T is important for comprehensive genetic screening and diagnosis in affected individuals.

The other mutations mentioned are either more prevalent in hereditary hemochromatosis cases or are linked to different conditions; thus, they are not relevant to this specific scenario where C282Y and H63D mutations are absent.