HFE
The HFE gene encodes a protein that is crucial in the regulation of iron absorption in the human body. Mutations in this gene are primarily associated with hereditary hemochromatosis, a condition characterized by excessive iron accumulation in the body.
Structure[edit | edit source]
The HFE gene is located on the short arm of chromosome 6 at position 21.3. It spans approximately 12 kb and consists of 7 exons. The protein product of the HFE gene is a membrane-bound glycoprotein that is structurally similar to major histocompatibility complex (MHC) class I molecules.
Function[edit | edit source]
The HFE protein plays a critical role in the regulation of iron homeostasis. It interacts with the transferrin receptor on the surface of cells, modulating the uptake of transferrin-bound iron. By influencing the interaction between transferrin and its receptor, HFE helps to maintain appropriate levels of iron in the body.
Clinical Significance[edit | edit source]
Mutations in the HFE gene are most commonly associated with hereditary hemochromatosis, particularly the C282Y and H63D mutations. These mutations lead to a loss of function of the HFE protein, resulting in increased intestinal absorption of iron and subsequent iron overload. This can cause damage to various organs, including the liver, heart, and pancreas, leading to conditions such as cirrhosis, diabetes, and cardiomyopathy.
Diagnosis[edit | edit source]
Diagnosis of hereditary hemochromatosis typically involves genetic testing for common HFE mutations, serum ferritin, and transferrin saturation tests. Early detection is crucial to prevent organ damage through therapeutic phlebotomy or chelation therapy.
Treatment[edit | edit source]
The primary treatment for hereditary hemochromatosis is regular phlebotomy to remove excess iron from the body. In cases where phlebotomy is not possible, iron chelation therapy may be used.
Research[edit | edit source]
Ongoing research is focused on understanding the precise mechanisms by which HFE mutations lead to iron overload and exploring potential therapeutic targets to modulate iron absorption in affected individuals.
Also see[edit | edit source]
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