New Research Highlights Increased Mortality Risk for C282Y Homozygotes Despite Normal Iron Levels A recent study published in The BMJ sheds light on the heightened risk of diabetes and mortality among individuals who are C282Y homozygous, even when iron levels appear normal. The research analysed data from over 132,000 participants in three Danish population cohorts, providing groundbreaking insights into the long-term health implications for those with this genetic profile. Key Findings: Increased Diabetes Risk: C282Y homozygotes displayed a significantly higher risk of developing diabetes, even in cases where ferritin and transferrin saturation were within normal ranges. Higher Mortality Rates in Diabetics: Among individuals with diabetes, C282Y homozygotes had nearly double the mortality risk compared to non-carriers. Diabetes accounted for 27.3% of all deaths in this genetic group. Liver and Heart Disease: The study confirmed an elevated risk of liver disease, including cirrhosis, among C282Y homozygotes, though the link to heart disease was less pronounced. Clinical Implications: These findings challenge existing guidelines that recommend genetic testing for genetic haemochromatosis only in individuals with elevated iron markers. The study suggests prioritizing early detection and management of diabetes in C282Y homozygotes, regardless of their iron indices. The researchers emphasize the need to revisit clinical guidelines for genetic hemochromatosis to include broader criteria for genetic testing. Early intervention could mitigate the risks associated with diabetes and potentially improve life expectancy for those with this genetic mutation. Read the full study here Manage Cookie Preferences