Genetic Hemochromatosis: Detection,Management,and Population Screening

Abstract

Genetic hemochromatosis (GH) is an inherited disease that results in iron overload, and, if untreated, causes irreversible organ damage. Knowledge and understanding of the early features of the condition, often non-specific, and of the diagnostic route are necessary to detect iron overload and diagnose GH before irremedial damage has been done. Genetic testing now plays an important role in diagnosis. Management of the patient with established GH centers on venesection to return body iron levels to normal, treatment of the complications of GH, and family screening for GH. Population screening for GH, the ideal strategy to prevent any morbidity from iron overload, has not yet been accepted by public health professionals, largely because of the lack of data on the disease penetrance in genetically susceptible individuals.