What mutation occurs in 89% of hemochromatosis cases in the absence of C282Y mutation?

In the context of hemochromatosis, specifically when discussing mutations that contribute to this genetic condition, the H63D mutation is notable for being present in a significant proportion of cases where the C282Y mutation is not the primary factor. Hemochromatosis is commonly associated with iron overload in the body, and the HFE gene mutations play a crucial role in its pathophysiology.

The H63D mutation, which results from an amino acid change at position 63 from histidine to aspartic acid, has been linked to a milder form of hemochromatosis compared to the C282Y mutation, which is the more prevalent mutation associated with severe iron overload. Although it is less penetrant than the C282Y mutation, the H63D variant can still lead to an increased risk of developing iron overload and related complications, particularly in individuals with other risk factors or environmental influences.

This mutation accounts for a substantial percentage of hemochromatosis cases when the C282Y mutation is absent, making it a significant variant to consider in the genetic diagnostics of the condition. The presence of H63D can indicate potential iron metabolism issues, which is why it's so important in diagnosing and managing hemochromatos