Hemochromatosis is primarily caused by a mutation in which gene?

Hemochromatosis is primarily associated with a mutation in the HFE gene, which plays a crucial role in iron metabolism. The HFE gene provides instructions for producing a protein that helps regulate the absorption of iron from the diet. In individuals with mutations in this gene, specifically the C282Y and H63D variants, the body's ability to control iron levels is impaired. This can lead to increased intestinal absorption of iron, resulting in excess iron accumulation in the organs, particularly the liver, heart, and pancreas, which can cause serious health complications.

Understanding the function of the HFE gene is essential in comprehending how hemochromatosis develops. The other genes mentioned are involved in different diseases or conditions. The HGB gene relates to hemoglobin production and disorders such as sickle cell disease and thalassemia, the CFTR gene is associated with cystic fibrosis, and the TP53 gene is linked to tumor suppression and various cancers. Therefore, the HFE gene is the key player in the pathology of hemochromatosis.