Hemochromatosis in Two Young Sisters
Authors: JOHN H. FELTS
Journal: Annals of Internal Medicine (1967)

Case Studies1 July 1967Hemochromatosis in Two Young SistersCase Studies and a Family SurveyJOHN H. FELTS, M.D., F.A.C.P., JOHN R. NELSON, M.D., C. NASH HERNDON, M.D., CHARLES L. SPURR, M.D., F.A.C.P.JOHN H. FELTS, M.D., F.A.C.P.Search for more papers by this author, JOHN R. NELSON, M.D.Search for more papers by this author, C. NASH HERNDON, M.D.Search for more papers by this author, CHARLES L. SPURR, M.D., F.A.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-67-1-117 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptHemochromatosis is characterized by increased absorption of ingested iron, saturation of iron-binding protein, and deposition of hemosiderin in body organs. Sheldon's postulation (1) that the process is an inborn error of iron metabolism has been challenged directly and indirectly in the past 30 years, and a number of other factors favoring iron overload have been distinguished, among them excessive intake, whether drug (2), dietary (3), or transfusion (4); increased absorption secondary to pancreatic insufficiency (5) or portacaval shunts (6); heavy consumption of alcohol and cirrhosis of the liver (3); and accelerated erythrocyte destruction with impaired iron reutilization (4). Only 1...References1. SHELDON JH: Haemochromatosis. Oxford University Press, London, 1935. Google Scholar2. WALLERSTEINROBBINS ROSL: Hemochromatosis after prolonged oral iron therapy in a patient with chronic hemolytic anemia. Amer. J. Med. 14: 256, 1953. CrossrefMedlineGoogle Scholar3. MACDONALD RA: Idiopathic hemochromatosis. Genetic or acquired? Arch. Intern. Med. (Chicago) 112: 184, 1963. CrossrefMedlineGoogle Scholar4. 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WILLIAMSPITCHERPARSONSONWILLIAMS RCSAHS: Iron absorption in the relatives of patients with idiopathic haemochromatosis. Lancet 1: 1243, 1965. CrossrefGoogle Scholar11. NEELSCHULL JVWJ: Human Heredity. University of Chicago Press, Chicago, 1954. Google Scholar12. FINCHFINCH SCCA: Idiopathic hemochromatosis, an iron storage disease. Medicine (Balt.) 34: 381, 1955. CrossrefMedlineGoogle Scholar13. DEBRÉDREYFUSFRÉZALLABIELAMYMAROTEAUXSCHAPIRASCHAPIRA RJCJDMPFG: Genetics of hemochromatosis. Ann. Hum. Genet. 23: 16, 1958. CrossrefMedlineGoogle Scholar14. AMATUZIOSTUTZMANVANDERBILTNESBITT DSFLMJS: Interpretation of the rapid intravenous glucose tolerance test in normal individuals and in diabetes mellitus. J. Clin. Invest. 32: 428, 1953. CrossrefMedlineGoogle Scholar15. PETERSGIOVANNIELLOAPTROSS TTJLJF: A new method for the determination of serum iron binding capacity. J. Lab. Clin. Med. 48: 274, 1956. MedlineGoogle Scholar16. PETERSGIOVANNIELLOAPTROSS TTJLJF: A simple improved method for the determination of serum iron. Ibid., p. 280. Google Scholar17. CROSBYCONRADWHEBY WHMEMS: The rate of iron accumulation in iron storage disease. Blood 22: 429, 1963. CrossrefMedlineGoogle Scholar18. LUOMANMÄKIHELIN KM: Primary premenopausal haemochromatosis in two sisters. Acta Med. Scand. 175: 79, 1964. CrossrefMedlineGoogle Scholar19. HAHNCAROTHERSDARBYMARTINSHEPPARDCANNONBEAMDENSENPETERSONMCCLELLAN PFELWJMCWROASPMJCGS: Iron metabolism in human pregnancy as studied with the radioactive isotope, Fe59. Amer. J. Obstet. Gynec. 61: 477, 1951. CrossrefMedlineGoogle Scholar20. PETERSONETTINGER RERH: Radioactive iron absorption in siderosis (hemochromatosis) of the liver. Amer. J. Med. 15: 518, 1953. CrossrefMedlineGoogle Scholar21. BALCERZAKWESTERMANLEEDOYLE SPMPREAP: Idiopathic hemochromatosis. A study of three families. Amer. J. Med. 40: 857, 1966. CrossrefMedlineGoogle Scholar22. FIELD RA: Glycogen deposition diseases, in The Metabolic Basis of Inherited Disease, 2nd ed., edited by STANBURY, J. B., WYNGAARDEN, J. B., FREDRICKSON, D. S. McGraw-Hill Book Co., Inc., New York, 1966, pp. 141-177. Google Scholar23. STANBURY JB: Familial goiter. Ibid., pp. 215-257. Google Scholar24. ALLAN W: Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy. Arch. Intern. Med. (Chicago) 63: 1123, 1939. CrossrefGoogle Scholar25. NUSSBAUMERPLATTNERRYWLIN THCA: Hémochromatose juvénile chez trois soeurs et un frère avec consanguinité des parents. J. Genet. Hum. 1: 139, 1952. Google Scholar26. POWELL LW: Iron storage in relatives of patients with haemochromatosis and in relatives of patients with alcoholic cirrhosis and haemosiderosis. A comparative study of 27 families. Quart. J. Med. 34: 427, 1965. MedlineGoogle Scholar27. LESIEUR A: A propos d'un cas familial de cirrhose bronzée. Arch. Mal. Appar. Dig. 39: 960, 1950. MedlineGoogle Scholar28. FAHEYRATHPRINCIOTTOBRICKRUBIN JFCEJVIBM: Evaluation of trisodium calcium diethylenetriaminepentaacetate in iron storage disease. J. Lab. Clin. Med. 57: 436, 1961. MedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: JOHN H. FELTS, M.D., F.A.C.P.; JOHN R. NELSON, M.D.; C. NASH HERNDON, M.D.; CHARLES L. SPURR, M.D., F.A.C.P.Affiliations: Winston-Salem, North CarolinaFrom the Departments of Medicine and Preventive Medicine, Bowman Gray School of Medicine of Wake Forest College and the North Carolina Baptist Hospital, Winston-Salem, N. C.This study was supported in part by a grant from the John A. Hartford Foundation, Inc., New York, N. Y., and by grant 3T4-CA-5035, National Institutes of Health, Bethesda, Md.Portions of this paper were presented at the Regional Meeting of the American College of Physicians, Chapel Hill, N. C., December 9, 1965.Requests for reprints should be addressed to John H. Felts, M.D., Department of Medicine, Bowman Gray School of Medicine, Winston-Salem, N. C. 27103. 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