Hemochromatosis is an autosomal recessive iron overload disorder. Hemochromatosis occurs due to the failure of the hepcidin response in the liver. A high level of iron in the plasma is stored in various organs and destroys them. Hemochromatosis in which the HFE gene is involved is called primary hereditary hemochromatosis. The mutation in the HFE gene takes place at p.C282Y. The methodology used in this research was organic DNA Extraction, Gel Electrophoresis, Tetra ARMS PCR, and Sanger’s DNA sequencing. This study's findings reveal a significant association between the TFR2 gene variant rs7385804 and hemochromatosis. The genotype frequencies in the case group were 59.3% for C/C, 38.9% for C/G, and 1.8% for G/G, compared to 77.1%, 22.9%, and 0% in the control group. The allelic frequency of the C allele was slightly lower in cases (78.7%) compared to controls (81.6%), while the G allele frequency was higher in cases (21.3%) than in controls (18.4%). This suggests that the C allele of rs7385804 may be a risk factor for developing hemochromatosis. This study investigates the genetic basis of hemochromatosis in the Pakistani population, focusing on the TFR2 gene variant rs7385804. It identifies a significant association between the C allele and disease susceptibility, with demographic data revealing a higher prevalence in males and onset in the mid-40s. While this study highlights the importance of genetic screening, there is a research gap in understanding the interaction between genetic and environmental factors. Future research should focus on larger, ethnically diverse samples and the development of personalized therapies. In conclusion, our study provides valuable insights into the genetic basis and demographic associations of hemochromatosis, focusing on the TFR2 gene variant rs7385804. We found a significant association between the C allele of rs7385804 and the development of hemochromatosis, highlighting the importance of genetic screening in at risk populations.