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ORIGINAL ARTICLE

Screening for C282Y homozygosity in a Norwegian population (HUNT2): The sensitivity and specificity of transferrin saturation

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Pages 92-97 | Received 29 Sep 2009, Accepted 21 Nov 2009, Published online: 14 Jan 2010

References

  • Stremmel W, Riedel HD, Niederau C, Strohmeyer G. Pathogenesis of genetic haemochromatosis. Eur J Clin Invest 1993;23:321–9.
  • Zhou T, Neubert H, Liu DY, Liu ZD, Ma YM, Kong XL, Luo W, Mark S, Hider RC. Iron binding dendrimers: a novel approach for the treatment of haemochromatosis. J Med Chem 2006;49:4171–82.
  • 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.
  • Haddow JE, Ledue TB. Preventing manifestations of hereditary haemochromatosis through population based screening. J Med Screen 1994;1:16–21.
  • Åsberg A, Hveem K, Thorstensen K, Ellekjær E, Kannelønning K, Fjøsne U, Halvorsen TB, Smethurst HB, Sagen E, Bjerve KS. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001;36:1108–15.
  • Åsberg A, Thorstensen K, Hveem K, Bjerve KS. Hereditary hemochromatosis: the clinical significance of the S65C mutation. Genet Test 2002;6:59–62.
  • Holmen J, Midthjell K, Krüger Ø, Langhammer A, Holmen TL, Bratberg GH, Vatten L, Lund-Larsen PG. The Nord-Trøndelag Health Study 1995-97 (HUNT2): objectives, contents, methods and participation. Norsk Epidemiologi 2003;13:19–32.
  • Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo RJ, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Wolff RK. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996;13:399–408.
  • Jeffrey GP, Chakrabarti S, Hegele RA Adams PC. Polymorphism in intron 4 of HFE may cause overestimation of C282Y homozygote prevalence in haemochromatosis. Nat Genet 1999;22:325–26.
  • Mangasser-Stephan K, Tag C, Reiser A, Gressner AM. Rapid genotyping of hemochromatosis gene mutations on the LightCycler with fluorescent hybridization probes. Clin Chem 1999;45:1875–8.
  • Bollhalder M, Mura C, Landt O, Maly FE. LightCycler PCR assay for simultaneous detection of the H63D and S65C mutations in the HFE hemochromatosis gene based on opposite melting temperature shifts. Clin Chem 1999;45:2275–8.
  • Abramson JH, Gahlinger PM. Computer program for epidemiologists: PEPI version 4.0. Sagebrush Press, Salt Lake City, Utah, USA.
  • Bell H, Thordal C, Raknerud N, Hansen T, Bosnes V, Halvorsen R, Heier HE, Try K, Leivestad T, Thomassen Y. Prevalence of hemochromatosis among first time and repeat blood donors in Norway. J Hepatol 1997;26:272–9.
  • Distante S, Berg JP, Lande K, Haug E, Bell H. High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression. Scand J Gastroenterol 1999;34:529–34.
  • Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD, Dawkins FD, Acton RT, Harris EL, Gordeuk VR, Leiendecker-Foster C, Speechley M, Snively BM, Holup JL, Thomson E, Sholinsky P. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005;352:1769–78.
  • Jackson HA, Carter K, Darke C, Guttridge MG, Ravine D, Hutton RD, Napier JA, Worwood M. HFE mutations, iron deficiency and overload in 10 500 blood donors. Br J Haematol 2001;114:474–84.
  • Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell L. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med 1999;341:718–24.
  • Distante S, Berg JP, Lande K, Haug E, Bell H. HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis. Gut 2000;47:575–9.
  • Åsberg A, Hveem K, Kannelønning K, Irgens WØ. Penetrance of the C282Y/C282Y genotype of the HFE gene. Scand J Gastroenterol 2007;42:1073–7.
  • Allen JK, Gurrin LC, Constantine CC, Osborne NJ, Delatycki MB, Nicoll AJ, McLaren CE, Bahlo M, Nisselle AE, Vulpe CD, Anderson GJ, Southey MC, Giles GG, English DR, Hopper JL, Olynyk JK, Powell LW, Gertig DM. Iron-overload–related disease in HFE hereditary hemochromatosis. N Engl J Med 2008;358:221–30.

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