Population Screening for Hemochromatosis: The Evolving Role of Genetic Analysis
Authors: Jessica G. Davis
Journal: Annals of Internal Medicine (1998)

Editorials1 December 1998Population Screening for Hemochromatosis: The Evolving Role of Genetic AnalysisJessica G. Davis, MDJessica G. Davis, MDJoan and Sanford I. Weill Medical College of Cornell University; New York, NY 10021Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-129-11_Part_1-199812010-00014 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail All clinicians are aware of the recent explosion of new genetic information. The number of genetic disorders with a defined molecular cause continues to increase rapidly. In turn, the successes of gene mutation analysis are reflected in the marked proliferation of genetic screening and diagnostic assays, including carrier tests. Unanticipated dividends have also resulted from gene mutation analysis. One of these is the identification of novel and unexpected mechanisms of mutation and genetic variation (for example, trinucleotide expansion and imprinting), which enhance our understanding of the intricacies of certain human genetic disorders.The emergence of new genetic information provides unprecedented ...References1. Holtzman NA, Watson MS. Promoting safe and effective genetic testing in the United States. Final Report of the Task Force on Genetic Testing. Bethesda, MD: Human Genome Research Institute, National Institutes of Health; 1997. Google Scholar2. Touchette N, Holtzman NA, Davis JG, Feetham S. Toward the 21st Century: Incorporating Genetics into Primary Health Care. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Pr; 1997. Google Scholar3. Symposium: Molecular medicine and hemochromatosis. Program and Abstracts, 14-15 May 1998. Bethesda, MD: National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health; 1998. Google Scholar4. Wilson JM, Junger G. The Principles and Practice of Screening for Disease. Public Health Paper 34. Geneva, Switzerland: World Health Organization; 1968. Google Scholar5. Bothwell TH, MacPhail AP. Hereditary hemochromatosis: etiologic, pathologic, and clinical aspects. Semin Hematol. 1998; 35:55-71. Google Scholar6. Cartwright GE, Edwards CQ, Kravitz K, Skolnick M, Amos DB, Johnson A, et al. Hereditary hemochromatosis. Phenotype expression in the disease. N Engl J Med. 1979; 301:175-9. Google Scholar7. Niederau C, Fischer R, Purschel A, Stremmel W, Haussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 1996; 110:1107-19. Google Scholar8. Adams PC, Deugnier Y, Moirand R, Brissot P. The relationship between iron overload, clinical symptoms, and age in 410 patients with hemochromatosis. Hepatology. 1997; 25:162-6. Google Scholar9. Edwards CQ, Griffen LM, Ajioka RS, Kushner JP. Screening for hemochromatosis: phenotype versus genotype. Semin Hematol. 1998; 35:72-6. Google Scholar10. Brissot P, Moirand R, Guyader D, Loreal O, Turlin B, Deugnier Y. Hemochromatosis after the gene discovery: revisiting the diagnostic strategy. J Hepatol. 1998; 28:14-8. Google Scholar11. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet. 1996; 13:399-408. Google Scholar12. 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; 280:173-8. Google Scholar13. Bradley LA, Haddow JE, Palomaki GE. Population screening for haemochromatosis: expectations based on a study of relatives of symptomatic probands. J Med Screen. 1996; 3:171-7. Google Scholar14. McDonnell SM, Phatak PD, Felitti V, Hover A, McLaren GD. Screening for hemochromatosis in primary care settings. Ann Intern Med. 1998; 129:962-70. Google Scholar Author, Article, and Disclosure InformationAffiliations: Joan and Sanford I. Weill Medical College of Cornell University; New York, NY 10021Corresponding Author: Jessica G. Davis, MD, Joan and Sanford I. Weill Medical College of Cornell University, Genetics HT 150, 525 East 68th Street, New York, NY 10021. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByImplementation of ironXS: a study of the acceptability and feasibility of genetic screening for hereditary hemochromatosis in high schoolsImplementation of HaemScreen, a workplace-based genetic screening program for hemochromatosisTreatment – GeneralThe Impact of Test Outcome Certainty on Interest in Genetic Testing Among College WomenUncertain risk: Genetic screening for susceptibility to haemochromatosisPopulation screening for hemochromatosis: Has the time finally come?Will the Real Hemochromatosis Please Stand Up?Adele L. Franks, MD and Wylie Burke, MD, PhD 1 December 1998Volume 129, Issue 11_Part_1Page: 905-908KeywordsClinical geneticsForecastingGenetic diseasesGenetic testingGeneticsHemochromatosisMedical geneticsPopulation geneticsResearch laboratoriesSigns and symptoms Issue Published: 1 December 1998 CopyrightCopyright © 1998 by American College of Physicians. All Rights Reserved.PDF DownloadLoading ...