Early Detection of Hereditary Hemochromatosis
Authors: CORWIN Q. EDWARDS
Journal: Annals of Internal Medicine (1984)

Editorials1 November 1984Early Detection of Hereditary HemochromatosisCORWIN Q. EDWARDS, M.D.CORWIN Q. EDWARDS, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-101-5-707 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptHereditary hemochromatosis is inherited as an autosomal recessive trait linked to the histocompatibility locus on the short arm of chromosome six (1-4). Homozygosity for hemochromatosis among whites is probably common, with an estimated gene frequency of 0.05 to 0.088, corresponding to a heterozygote frequency of 10% to 16% and a disease frequency of 3 to 8 per 1000 population (5-8). Because many persons may have undiagnosed hereditary hemochromatosis, there is need for a simple, inexpensive test to identify young hemochromatosis homozygotes. Because a defective gene product has not been identified, alternates (such as blood tests of iron stores) have to...References1. SIMONBOURELFAUCHETGENETET MMRB. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut. 1976;17:332-4. CrossrefMedlineGoogle Scholar2. LIPINSKIHORSSALEUN MJJ. Idiopathic hemochromatosis: linkage with HLA. Tissue Antigens. 1978;11:471-4. CrossrefMedlineGoogle Scholar3. CARTWRIGHTEDWARDSKRAVITZ GCK. Hereditary hemochromatosis: phenotypic expression of the disease. N Engl J Med. 1979;301:175-9. CrossrefMedlineGoogle Scholar4. EDWARDSSKOLNICKKUSHNER CMJ. Hereditary hemochromatosis: contributions of genetic analyses. Prog Hematol. 1981;12:43-71. MedlineGoogle Scholar5. SIMONBOURELGENETETFAUCHET MMBR. Idiopathic hemochromatosis: demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med. 1977;297:1017-21. CrossrefMedlineGoogle Scholar6. EDWARDSDADONESKOLNICKKUSHNER CMMJ. Hereditary haemochromatosis. Clin Haematol. 1982;11:411-35. CrossrefMedlineGoogle Scholar7. BASSETTDORANHALLIDAYBASHIRPOWELL MTJHL. Idiopathic hemochromatosis: demonstration of homozygous-heterozygous mating by HLA typing of families. Hum Genet. 1982;60:352-6. CrossrefMedlineGoogle Scholar8. OLSSONRITTERROSENHEEDMANSTAUGARD KBUPF. Prevalence of iron overload in central Sweden. Acta Med Scand. 1983;213:145-50. CrossrefMedlineGoogle Scholar9. VECCHIO T. Predictive value of a single diagnostic test in unselected populations. N Engl J Med. 1966;274:1171-3. CrossrefMedlineGoogle Scholar10. DADONEKUSHNEREDWARDSBISHOPSKOLNICK MJCDM. Hereditary hemochromatosis: analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am J Clin Pathol. 1982;78:196-207. CrossrefMedlineGoogle Scholar11. BASSETTHALLIDAYFERRISPOWELL MJRL. Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests. Gastroenterology. 1984;87:628-33. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: LDS Hospital Salt Lake City, Utah PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByLiver: Normal Anatomy, Imaging Techniques, and Diffuse DiseasesHereditary hemochromatosisSouthern Blood Club Symposium: An Update On Selected Aspects of HemochromatosisHemochromatosis 1 November 1984Volume 101, Issue 5Page: 707-708KeywordsChromosomesHematologic testsHemochromatosisHistocompatibilityHomozygosity Issue Published: 1 November 1984 PDF DownloadLoading ...