Evaluation of TFR2 rs7385804 polymorphism as a genetic marker for hemochromatosis in the pakistani population

Hemochromatosis is an autosomal recessive iron overload disorder. The TFR2 gene variant rs7385804 has been implicated in hemochromatosis, but its role in the Pakistani population remains unexplored. This study intended to examine the association of the TFR2 gene variant rs7385804 with hemochromatosis in Pakistani individuals. We employed a case-control study design, recruiting 200 hemochromatosis patients and 200 healthy controls from the Pakistani population. Deoxyribonucleic acid was isolated from blood samples using the phenol-chloroform method. Sanger sequencing and Tetra-ARMS PCR were used to identify the TFR2 genes and their variant rs7385804. Our results showed a significant association between the TFR2 gene variant rs7385804 and hemochromatosis in the Pakistani population (p < 0.001). The rate of the abnormal alleles was (35%) higher than that of the control (15%). Sanger sequencing confirmed the presence of the variant in 70% of patients, while Tetra-ARMS PCR showed 90% concordance with sequencing results. This study demonstrates the utility of Sanger sequencing and Tetra-ARMS PCR in detecting the TFR2 gene variant rs7385804 in the Pakistani population. Our findings suggest that this variant may serve as a genetic marker for hemochromatosis in this population. More research is required to validate these outcomes and discover the clinical consequences of this association.