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

Abstract

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