Interestingly, in one patient with a genetic diagnosis of HFE‐related hemochromatosis but with an atypical phenotype, additional low‐frequency variants in other hemochromatosis genes (TFR2 and HJV) were detected, contributing to the clinical phenotype, underlying the additional potential role of genetic heterogeneity detected by NGS to explain the penetrance and phenotypic expression of classical genetic diseases [39]. Here, TFR2 is linked to hemochromatosis.