A decade of iron overload disorders and hemochromatosis: clinical and genetic findings from a specialized center in Colombia

Colombian patients with iron overload disorders show clinical, epidemiological, and biochemical profiles consistent with global patterns, yet exhibit distinct genetic diversity. Notably, they have a low prevalence of the C282Y mutation and a higher prevalence of the H63D mutation, differing from European HH profiles. Despite elevated ferritin and transferrin saturation, no significant clinical symptoms were observed, suggesting potential delays in diagnosis. These findings highlight the need for early, region-specific diagnostic approaches to prevent complications like cirrhosis and underscore the importance of further genetic research across Latin America.