301
Views
12
CrossRef citations to date
0
Altmetric
Liver and biliary tract

Health check-ups and family screening allow detection of hereditary hemochromatosis with less advanced liver fibrosis and survival comparable with the general population

, , , , , , , , , & show all
Pages 1118-1126 | Received 06 Mar 2011, Accepted 18 May 2011, Published online: 15 Jun 2011

References

  • Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999;341:718–24.
  • Asberg A, Hveem K, Thorstensen K, Ellekjter E, Kannelønning K, Fjøsne U, Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001;36:1108–15.
  • Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD, Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005;352:1769–78.
  • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399–408.
  • Cardoso EM, Stal P, Hagen K, Cabeda JM, Esin S, de Sousa M, HFE mutations in patients with hereditary haemochromatosis in Sweden. J Internal Med 1998;243:203–8.
  • McDonnell SM, Preston BL, Jewell SA, Barton JC, Edwards CQ, Adams PC, A survey of 2851 patients with hemochromatosis: symptoms and response to treatment. Am J Med 1999;106:619–24.
  • Fargion S, Mandelli C, Piperno A, Cesana B, Francanzani AL, Fraquelli M, Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis. Hepatology 1992;15:655–9.
  • 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.
  • Adams PC, Speechley M, Kertesz AE. Long-term survival analysis in hereditary hemochromatosis. Gastroenterology 1991;101:368–72.
  • Gurrin LC, Osborne NJ, Constantine CC, McLaren CE, English DR, Gertig DM, The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology 2008;135:1945–52.
  • Milman N, Pedersen P, a Steig T, Byg KE, Graudal N, Fenger K. Clinically overt hereditary hemochromatosis in Denmark 1948–1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients. Ann Hematol 2001;80:737–44.
  • Wojcik JP, Speechley MR, Kertesz AE, Chakrabarti S, Adams PC. Natural history of C282Y homozygotes for hemochromatosis. Can J Gastroenterol 2002;16:297–302.
  • Elmberg M, Hultcrantz R, Ekbom A, Brandt L, Olsson S, Olsson R, Cancer risk in patients with hereditary hemochromatosis and in their first-degree relatives. Gastroenterology 2003;125:1733–41.
  • Elmberg M, Hultcrantz R, Ebrahim F, Olsson S, Lindgren S, Lööf L, Increased mortality risk in patients with phenotypic hereditary hemochromatosis but not in their first-degree relatives. Gastroenterology 2009;137:1301–9.
  • Yang Q, McDonnell SM, Khoury MJ, Cono J, Parrish GR. Hemochromatosis-associated mortality in the United States from 1979 to 1992: an analysis of Multiple-Cause Mortality Data. Ann Intern Med 1998;129:946–53.
  • Brown AS, Gwinn M, Cogswell ME, Khoury MJ. Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979–1997. Genet Med 2001;3:109–11.
  • Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G–> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002;359:211–18.
  • McCune CA, Ravine D, Carter K, Jackson HA, Hutton D, Hedderich J, Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients. Gut 2006;55:554–62.
  • Buffone GJ, Beck JR. Cost-effectiveness analysis for evaluation of screening programs: hereditary hemochromatosis. Clin Chem 1994;40:1631–6.
  • Stave GM, Mignogna JJ, Powell GS, Hunt CM. Evaluation of a workplace hemochromatosis screening program. Am J Prev Med 1999;16:303–6.
  • Delatycki MB, Allen KJ, Nisselle AE, Collins V, Metcalfe S, du Sart D, Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 2005;366:314–16.
  • Powell LW, Dixon JL, Ramm GA, Purdie DM, Lincoln DJ, Anderson GJ, Screening for hemochromatosis in asymptomatic subjects with or without a family history. Arch Intern Med 2006;166:294–301.
  • Scheuer PJ, Williams R, Muir AR. Hepatic pathology in relatives of patients with haemochromatosis. J Pathol Bacteriol 1962;84:53–64.
  • Guyader D, Jacquelinet C, Moirand R, Turlin B, Mendler MH, Chaperon J, Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology 1998;115:929–36.
  • Beaton M, Guyader D, Deugnier Y, Moirand R, Chakrabarti S, Adams P. Noninvasive prediction of cirrhosis in C282Y-linked hemochromatosis. Hepatology 2002;36:673–8.
  • Morrison ED, Brandhagen DJ, Phatak PD, Barton JC, Krawitt EL, El-Serag HB, Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic hemochromatosis. Ann Intern Med 2003;15: 138:627–33.
  • Andersen RV, Tybjaerg-Hansen A, Appleyard M, Birgens H, Nordestgaard BG. Hemochromatosis mutations in the general population: iron overload progression rate. Blood 2004;103:2914–19.
  • Gleeson F, Ryan E, Barrett S, Crowe J. Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening. Eur J Gastroenterol Hepatol 2004;16:859–63.
  • Bulaj ZJ, Ajioka RS, Phillips JD, LaSalle BA, Jorde LB, Griffen LM, Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med 2000;343:1529–35.
  • Adams PC, Deugnier Y, Moirand R, Brissot P. The relationship between iron overload, clinical symptoms and age in 410 patients with genetic hemochromatosis. Hepatology 1997;25:162–66.
  • Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, Delatycki MB, Nicoll AJ, Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008;358:221–30.
  • Olsson KS, Ritter B, Rosen U, Heedman PA, Staugard F. Prevalence of iron overload in central Sweden. Acta Med Scand 1983;213:145–50.
  • Waalen J, Felitti VJ, Gelbart T, Beutler E. Screening for hemochromatosis by measuring ferritin levels: a more effective approach. Blood 2008;111:3373–6.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.