Type 1 Hemochromatosis: A Review of the History, Inheritance and Treatment of Iron Overload Disorder

Hereditary hemochromatosis (also known as type 1 hemochromatosis, iron overload disorder, or the Celtic Curse) is a genetic disorder characterized by an autosomal recessive inheritance pattern. This review project focused on gathering comprehensive data about history, causes, inheritance, diagnosis, and treatment of disorder. Through such research, it was discovered that may occur due to one two nucleotide sequence changes (either C282Y mutation H63D mutation) in HFE gene, which codes for construction homeostatic regulator protein regulates production hormone hepcidin. As result these mutations, individuals affected have elevated levels excess deposits tissues organs. Such cause variety symptoms complications, including fatigue, skin discoloration, heart failure, cirrhosis, liver cancer, diabetes. Hemochromatosis most common disorders world, affecting every three hundred individuals. The majority patients are northern European descent. Currently, there no cure hemochromatosis; however, primary method this phlebotomy. Due widespread prevalence researchers continue explore experimental methods, gene therapy chelation therapy.