Article

You have full text access to this OnlineOpen article

Prevalence of hereditary hemochromatosis in a Massachusetts corporation: Is Celtic origin a risk factor?

  1. B N Smith,
  2. W Kantrowitz,
  3. N D Grace,
  4. M S Greenberg,
  5. T J Patton,
  6. R Ookubo,
  7. K Sorger,
  8. J G Semeraro,
  9. J R Doyle,
  10. A G Cooper,
  11. B R Kamat,
  12. L M Maregni,
  13. W M Rand

Article first published online: 30 DEC 2003

DOI: 10.1002/hep.510250622

Issue

Hepatology

Hepatology

Volume 25, Issue 6, pages 1439–1446, June 1997

Additional Information

How to Cite

Smith, B. N., Kantrowitz, W., Grace, N. D., Greenberg, M. S., Patton, T. J., Ookubo, R., Sorger, K., Semeraro, J. G., Doyle, J. R., Cooper, A. G., Kamat, B. R., Maregni, L. M. and Rand, W. M. (1997), Prevalence of hereditary hemochromatosis in a Massachusetts corporation: Is Celtic origin a risk factor?. Hepatology, 25: 1439–1446. doi: 10.1002/hep.510250622

Author Information

  1. Division of Gastroenterology, Faulkner Hospital, Tufts University School of Medicine, Boston, MA 02130, USA

Publication History

  1. Issue published online: 30 DEC 2003
  2. Article first published online: 30 DEC 2003

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

Get PDF (243K)

References

  • 1
    Niederau C, Fischer R, Sonnenberg A, Stremmel W, Trampisch HJ, Strohmeyer G. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med 1985; 313: 1256–1262.
  • 2
    Adams PC, Speechley M, Kertesz AE. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 1991; 101: 368–372.
  • 3
    Grace ND. Iron metabolism and hemochromatosis. In: ZakimE, BoyerTD, eds. Hepatology: A Textbook of Liver Disease. Philadelphia, PA: Saunders, 1982: 1159–1176.
  • 4
    Dadone MM, Kushner JP, Edwards CQ, Bishop DT, Skolnick MH. Hereditary hemochromatosis: analysis of laboratory expression of the disease by genotype in 18 pedigrees. Am J Clin Pathol 1982; 78: 196–207.
  • 5
    Edwards CQ, Dadone MM, Skolnick MH, Kushner JP. Hereditary haemochromatosis. Clin Haematol 1982; 11: 411–435.
  • 6
    Edwards CQ. Early detection of hereditary hemochromatosis. Ann Intern Med 1984; 101: 707–708.
  • 7
    Bothwell TH, Charlton RW, Motulsky AG. Idiopathic hemochromatosis. In: StanburyJB, WyngaardenJW, FredricksonDS, GoldsteinJL, BrownMS, eds. The Metabolic Basis of Inherited Disease. 5th ed. New York: McGraw-Hill, 1983: 1269–1298.
  • 8
    Borwein ST, Ghent CN, Flanagan PR, Chamberlain MJ, Valberg LS. Genetic and phenotypic expression of hemochromatosis in Canadians. Clin Invest Med 1983; 6: 171–179.
  • 9
    Olsson KS, Ritter B, Rosén U, Heedman PA, Staugård F. Prevalence of iron overload in central Sweden. Acta Med Scand 1983; 213: 145–150.
    Direct Link:
  • 10
    Lindmark B, Eriksson S. Regional differences in the idiopathic hemochromatosis gene frequency in Sweden. Acta Med Scand 1985; 218: 299–304.
    Direct Link:
  • 11
    Hallberg L, Björn-Rasmussen E, Jungner I. Prevalence of hereditary haemochromatosis in two Swedish urban areas. J Intern Med 1989; 225: 249–255.
    Direct Link:
  • 12
    Olsson KS, Eriksson K, Ritter B, Heedman PA. Screening for iron overload using transferrin saturation. Acta Med Scand 1984; 215: 105–112.
    Direct Link:
  • 13
    Karlsson M, Ikkala E, Reunanen A, Takkunen H, Vuori E, Mäkinen J. Prevalence of hemochromatosis in Finland. Acta Med Scand 1988; 224: 385–390.
    Direct Link:
  • 14
    Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 1988; 318: 1355–1362.
  • 15
    Leggett BA, Halliday JW, Brown NN, Bryant S, Powell LW. Prevalence of haemochromatosis amongst asymptomatic Australians. Br J Haematol 1990; 74: 525–530.
    Direct Link:
  • 16
    Velati C, Piperno A, Fargion S, Colombo S, Fiorelli G. Prevalence of idiopathic hemochromatosis in Italy: study of 1301 blood donors. Haematologica 1990; 75: 309–312.
  • 17
    Jonsson JJ, Johannesson GM, Sigfusson N, Magnusson B, Thjodleifsson B, Magnusson S. Prevalence of iron deficiency and iron overload in the adult Icelandic population. J Clin Epidemiol 1991; 44: 1289–1297.
  • 18
    Wiggers P, Dalhøj J, Kiær H, Ring-larsen H, Petersen PH, Blaabjerg O, Hørder M. Screening for haemochromatosis: prevalence among Danish blood donors. J Intern Med 1991; 230: 265–270.
    Direct Link:
  • 19
    MacSween RNM, Scott AR. Hepatic cirrhosis: a clinico-pathological view of 520 cases. J Clin Pathol 1973; 26: 936–942.
  • 20
    Tanner AR, Desai S, Lu W, Wright R. Screening for haemochromatosis in the UK: preliminary results [Abstract]. Gut 1985; 26: A1139–A1140.
  • 21
    Baer DM, Simmons JL, Staples RL, Rumore GJ, Morton CJ. Hemochromatosis screening in asymptomatic ambulatory men 30 years of age and older. Am J Med 1995; 98: 464–468.
  • 22
    Simon M, Bourel M, Fauchet R, Genetet B. Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis. Gut 1976; 17: 332–334.
  • 23
    Bomford A, Eddleston ALWF, Kennedy LA, Batchelor JR, Williams R. Histocompatibility antigens as markers of abnormal iron metabolism in patients with idiopathic haemochromatosis and their relatives. Lancet 1977; 1: 327–329.
  • 24
    Walters JM, Watt DW, Stevens FM, McCarthy CF. HLA antigens in haemochromatosis [Letter]. Br Med J 1975; 4: 520.
  • 25
    Shewan WG, Mouat SA, Allan TM. HLA antigens in haemochromatosis. Br Med J 1976; 1: 281–282.
  • 26
    Laukens P, Versieck J, De Potter E, Barbier F. Association of HLA antigens with idiopathic hemochromatosis. Gastroenterology 1978; 74: 1351.
  • 27
    Bassett ML, Halliday JW, Powell LW, Doran T, Bashir H. Early detection of idiopathic haemochromatosis: relative value of serum-ferritin and HLA typing. Lancet 1979; 2: 4–7.
  • 28
    Simon M, Fauchet R, Hespel JP, Beaumont C, Brissot P, Hery B, Hita de Nercy Y, et al. Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene. Gastroenterology 1980; 78: 703–708.
  • 29
    Simon M, Alexandra JL, Fauchet R, Genetet B, Bourel M. The genetics of hemochromatosis. Prog Med Genet 1980; 4: 135–168.
  • 30
    Gordeuk V, Mukiibi J, Hasstedt SJ, Samowitz W, Edwards CQ, West G, Ndambire S, et al. Iron overload in Africa: interaction between a gene and dietary iron content. N Engl J Med 1992; 326: 95–100.
  • 31
    Balan V, Baldus W, Fairbanks V, Michels V, Burritt M, Klee G. Screening for hemochromatosis: a cost-effectiveness study based on 12,258 patients. Gastroenterology 1994; 107: 453–459.
  • 32
    Tietz NW. Electrolytes. In: TietzNW, eds. Fundamentals of clinical chemistry. Philadelphia, PA: Saunders, 1976: 923.
  • 33
    Stookey LL. Ferrozine–a new spectrophotometer reagent for iron. Anal Chem 1970; 42: 779.
  • 34
    Henry RJ. Clinical chemistry principles and technics. New York: Harper&Row, 1974.
  • 35
    Giegel JL, Brotherton MM, Cronin P, D'Aquino M, Evans S, Heller ZH, Knight WS, et al. Radial partition immunoassay. Clin Chem 1982; 28: 1894–1898.
  • 36
    Kowdley KV, Krawitt EL, Trainer T, Susskind K, Pratt D, Knox TA, Kaplan MM, et al. Hepatic iron in hereditary hemochroniatosis (HHC): a multicenter United States study [Abstract]. Hepatology 1995; 22: 371A.
  • 37
    Bassett ML, Halliday JW, Bryant S, Dent O, Powell LW. Screening for hemochroniatosis. Ann N Y Acad Sci 1988; 526: 274–289.
    Direct Link:
  • 38
    Borwein S, Ghent CN, Valberg LS. Diagnostic efficacy of screening tests for hereditary hemochroniatosis. Can Med Assoc J 1984; 131: 895–901.
  • 39
    Bassett ML, Halliday JW, Powell LW. Value of hepatic iron measurements in early hemochroniatosis and determination of the critical iron level associated with fibrosis. Hepatology 1986; 6: 24–29.
    Direct Link:
  • 40
    Powell LW, Summers KM, Board PG, Axelsen E, Webb S, Halliday JW. Expression of hemochroniatosis in homozygous subjects: implications for early diagnosis and prevention. Gastroenterology 1990; 98: 1625–1632.
  • 41
    Bonkovsky HL, Slaker DP, Bills EB, Wolf DC. Usefulness and limitations of laboratory and hepatic imaging studies in iron-storage disease. Gastroenterology 1990; 99: 1079–1091.
  • 42
    Barry M, Sherlock S. Measurement of liver iron concentration in needle-biopsy specimens. Lancet 1971; 1: 100–103.
  • 43
    Terasaki PI, McCelland J, Park MS, McCurdy B. Microdroplet lymphocyte cytotoxicity tests. Manual of tissue typing techniques. Bethesda, MD: National Institutes of Health, 1974: 67–72.
  • 44
    Ray JG, Hare DB, Pedersen PD, Mullally DI. NIH lymphocyte microcytotoxicity technique. NIAID manual of tissue typing techniques. Bethesda, MD: National Institute of Allergy and Infectious Diseases, 1976: 22–24.
  • 45
    Simon M, Bourel M, Genetet B, Fauchet R. Idiopathic hemochroniatosis: demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med 1977; 297: 1017–1021.
  • 46
    Bassett ML, Doran TJ, Halliday JW, Bashir HV, Powell LW. Idiopathic hemochroniatosis: demonstration of homozygous-heterozygous mating by HLA typing of families. Hum Genet 1982; 60: 352–356.
  • 47
    Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399–408.
  • 48
    Edwards CQ, Kushner JP. Screening for hemochroniatosis. N Engl J Med 1993; 328: 1616–1620.
  • 49
    OliphantM, HarpurJ, ed. The Atlas of the Ancient World. New York: Simon&Schuster, 1992: 84.
  • 50
    BarracloughG, ParkerG, eds. The times atlas of world history. 4th ed. Maplewood: Hammond, 1993: 84.
  • 51
    1990 Census population, social and economy characteristics of Massachusetts; Agency of the bureau of census. Washington DC: U.S. Government Printing Office, 1993: 83, 347.
  • 52
    Porto G, Da Silva BM, Vincente C, and De Sousa M. Idiopathic haemochromatosis in north Portugal: association with haplotype A3B7. J Clin Pathol 1989; 42: 667–668.
  • 53
    Adams PC, Gregor JC, Kertesz AE, Valberg LS. Screening blood donors for hereditary hemochroniatosis: decision analysis model based on a 30-year database. Gastroenterology 1995; 109: 177–188.
Get PDF (243K)