Role of TfR2-Y250X and TfR1- rs3817672 Single Nucleotide Polymorphism on Pathophysiology of Iron Deficiency Anemia
The Journal of the Association of Physicians of India, 2019
Background Transferrin receptor (TfR) is a carrier protein for transferrin. It is regulated in re... more Background Transferrin receptor (TfR) is a carrier protein for transferrin. It is regulated in response to intracellular iron concentration and plays a role for the import of iron into the cell. The transferring receptor 2 (TFR2) gene showed homology to transferrin receptor 1 (TFR1) gene and encodes a transmembrane protein with a large extracellular domain, which is able to bind transferrin. Mutations in transferrin receptors (TfR2 and TfR1) may alter the pathophysiology of iron deficiency anemia. Alteration in genes encoding transferring receptor cause change in iron homeostatsis and provides a tool for investigating the excess iron absorption and abnormal iron distribution in iron related disorders. However the clinical significance of the interaction of transferring mutations with iron deficiency anemia remains unclear. Thus, the objective of my study was to investigate the effect of TFR1 and TFR2 genotypes on pathophysiology of iron deficiency anemia. Study Design Study subjects...
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Papers by Sweta Pandey