Will the Real Hemochromatosis Please Stand Up?

Editorials15 June 1999Will the Real Hemochromatosis Please Stand Up?Adele L. Franks, MD and Wylie Burke, MD, PhDAdele L. Franks, MDThe Prudential Center for Health Care Research; Atlanta, GA 30339 (Franks)University of Washington; Seattle, WA 98105 (Burke)Search for more papers by this author and Wylie Burke, MD, PhDThe Prudential Center for Health Care Research; Atlanta, GA 30339 (Franks)University of Washington; Seattle, WA 98105 (Burke)Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-130-12-199906150-00021 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail When hereditary hemochromatosis was considered a very rare disease and diagnosis relied on severe signs, such as the triad of cirrhosis, diabetes mellitus, and skin bronzing, along with evidence of iron overload on tissue biopsy, there was little controversy about its diagnosis. Now, however, the recognition that these severe disease manifestations are preventable with early treatment has led to strong interest in early diagnosis of the disease. Because numerous other conditions can cause the signs and symptoms seen early in the course of hemochromatosis (such as arthralgia, fatigue, and cardiac arrhythmia), the effort to develop more sensitive and specific methods ...References1. Powell LW, George DK, McDonnell SM, Kowdley KV. Diagnosis of hemochromatosis. Ann Intern Med. 1998;129:925-31. LinkGoogle Scholar2. Burke W, Thomson E, Khoury MJ, McDonnell SM, Press N, Adams PC, et al . Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA. 1998;280:172-8. CrossrefMedlineGoogle Scholar3. Bradley LA, Johnson DD, Palomaki GE, Haddow JE, Robertson NH, Ferrie RM. Hereditary hemochromatosis mutation frequencies in the general population. J Med Screen. 1998;5:34-6. CrossrefMedlineGoogle Scholar4. Bacon BR, Olynyk JK, Brunt EM, Britton RS, Wolff RK. HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med. 1999;130:953-62. LinkGoogle Scholar5. Davis JG. Population screening for hemochromatosis: the evolving role of genetic analysis. Ann Intern Med. 1998;129:905-8. LinkGoogle Scholar6. Bacon BR, Sadiq SA. Hereditary hemochromatosis: presentation and diagnosis in the 1990s. Am J Gastroenterol. 1997;92:784-9. MedlineGoogle Scholar7. Adams PC, Campion ML, Gandon G, LeGall JY, David V, Jouanolle AM. Clinical and family studies in genetic hemochromatosis: microsatellite and HFE studies in five atypical families. Hepatology. 1997;26:986-90. CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAuthors: Adele L. Franks, MD; Wylie Burke, MD, PhDAffiliations: The Prudential Center for Health Care Research; Atlanta, GA 30339 (Franks)University of Washington; Seattle, WA 98105 (Burke)Corresponding Author: Adele L. Franks, MD, The Prudential Center for Health Care Research, 2859 Paces Ferry Road, Suite 820, Atlanta, GA 30339.Current Author Addresses: Dr. Franks: The Prudential Center for Health Care Research, 2859 Paces Ferry Road, Suite 820, Atlanta, GA 30339.Dr. Burke: University of Washington, Box 354765, 4245 Roosevelt Way NE, Seattle, WA 98105. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoHFE Genotype in Patients with Hemochromatosis and Other Liver Diseases Bruce R. Bacon , John K. Olynyk , Elizabeth M. Brunt , Robert S. Britton , and Roger K. Wolff HFE Genotype in Patients with Hemochromatosis and Other Liver Diseases Gordon D. McLaren HFE Genotype in Patients with Hemochromatosis and Other Liver Diseases Lawrie W. Powell HFE Genotype in Patients with Hemochromatosis and Other Liver Diseases Bruce R. Bacon , Robert S. Britton , and John K. Olynyk Metrics Cited byScreening Primary Care Patients for Hereditary Hemochromatosis with Transferrin Saturation and Serum Ferritin Level: Systematic Review for the American College of PhysiciansBrian Schmitt, MD, MPH, Robert M. Golub, MD, and Richard Green, MDPopulation screening for HFE-associated haemochromatosis: should we have to pay for our genes?Update in HematologyGeraldine P. Schechter, MD, Harish P.G. Dave, MD, and Barbara M. Alving, MDHFE Genotype in Patients with Hemochromatosis and Other Liver DiseasesGordon D. McLaren, MDHFE Genotype in Patients with Hemochromatosis and Other Liver DiseasesLawrie W. Powell, MD, PhDHFE Genotype in Patients with Hemochromatosis and Other Liver DiseasesBruce R. Bacon, MD, Robert S. Britton, PhD, and John K. Olynyk, MDClinical Implications of the Hemochromatosis Gene 15 June 1999Volume 130, Issue 12Page: 1018-1019KeywordsGenetic diseasesGenetic testingGenotypingHealth services researchHemochromatosisHomozygosityLiver diseasesMutationPatientsPhlebotomy ePublished: 15 August 2000 Issue Published: 15 June 1999 Copyright & PermissionsCopyright © 1999 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...