Diagnosis and Treatment of Hemochromatosis

Abstract

Hemochromatosis is not a new disease, and genetic variants for hemochromatosis have been identified in human fossils that are over 4000 years old in North Western Europe.¹ These variants were postulated to promote iron absorption as a survival benefit. In contrast, excess iron absorption can lead to serious complications, including arthritis, liver fibrosis, cirrhosis, primary liver cancer, and diabetes. In this review, the emphasis is on recent developments in the diagnosis and treatment of hemochromatosis, focusing on those homozygous for the C282Y variant in the HFE gene. In this condition, there is a clear need for earlier diagnosis, leading to earlier treatment, to prevent morbidity and mortality from iron overload.