Hemochromatosis Type 2 Protein

Hemochromatosis type 2, or juvenile hemochromatosis, is a genetic disorder causing excessive iron accumulation. It is caused by mutations in either the HJV (hemojuvelin, type 2A) or HAMP (hepcidin, type 2B) genes. Hemojuvelin regulates hepcidin expression, while hepcidin directly controls iron absorption. Loss-of-function mutations lead to unregulated iron uptake, resulting in severe iron overload and early-onset complications like liver cirrhosis, diabetes, and cardiomyopathy. Therapeutic strategies involve iron chelation to remove excess iron. Gene therapy and hepcidin modulation are potential future treatments.

Other names

Juvenile Hemochromatosis ProteinHJV/HFE2 (Hemojuvelin)HAMP (Hepcidin)Hemojuvelin/Hepcidin Axis

Iron chelation therapy removes excess iron from the body. Gene therapy to restore HJV/HAMP function is theoretical but under investigation. Modulation of hepcidin levels is a potential therapeutic strategy.