Hereditary hemochromatosis: a common, often unrecognized, genetic disease.
Hereditary hemochromatosis in people of northern European descent is more common than many physicians realize. It causes excessive gastrointestinal absorption of iron, leading to potentially fatal iron deposition in multiple organs. Early diagnosis and phlebotomy to reduce iron stores can prevent complications and provide normal life expectancy. Genetic testing of relatives of patients with hemochromatosis is warranted in some circumstances.
McCarthy
Geraldine M
GM
Department of Medicine, University College and Mater Misericordiae Hospital, Royal College of Surgeons in Ireland, Dublin. gmccarthy@rcsi.ie
Crowe
John
J
McCarthy
Conor J
CJ
Eustace
Stephen
S
Kenny
Dermot
D
D000465:Algorithms; D003937:Diagnosis, Differential; D005817:Genetic Counseling; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008099:Liver / Q000473:pathology; D018962:Phlebotomy; D012307:Risk Factors; D014168:Transferrin / Q000378:metabolism
D014168:Transferrin