Hemochromatosis is a hereditary disease that causes excessive accumulation of iron in the body, which can lead to organ damage, primarily to the liver. There are different genotypes of the disease, depending on the mutation in the HFE gene. The aim of this study was to collect and analyze molecular testing data of patients diagnosed with a HFE gene mutation, as well as their ferritin, iron and transferrin saturation levels. The study included 179 patients who underwent molecular testing at the Department of Molecular Pathology, Forensic Medicine, and Cytology at KBC Split. These ferritin, transferrin saturation, and iron values were collected at the Department of Medical Laboratory Diagnostics at KBC Split. The results showed that the majority of participants were middle – aged or older (46 – 58 years). The most prevalent genotype among the participants was the one HFE wild – type gene (49,72%), while the rarest was the C282Y homozygote (1,68%). The values of ferritin (20 – 5114 ng/mL), iron (7 – 73 μmol/L), and transferrin saturation (12 – 98%) were above the reference values for all genotypes with a mutation. The obtained results emphasize the importance of molecular and biochemical diagnostics in an interdisciplinary and individualized approach to the diagnosis and treatment of hemochromatosis.