Liver Iron Concentration in Patients Referred to a Secondary Hospital for Hyperferritinemia: Analysis of the Different Groups According to HFE Mutations and the Transferrin Saturation Index

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To Cite : Castiella A, Zapata E, Zubiaurre L, Iribarren A, Juan M D D, et al. Liver Iron Concentration in Patients Referred to a Secondary Hospital for Hyperferritinemia: Analysis of the Different Groups According to HFE Mutations and the Transferrin Saturation Index, Hepat Mon. 2017 ;17(1):e41737. doi: 10.5812/hepatmon.41737.
Copyright: Copyright © 2017, Hepatitis Monthly. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited..
1. Background
2. Objectives
3. Methods
4. Results
5. Discussion
  • 1. Olynyk JK, Gan E, Tan T. Predicting iron overload in hyperferritinemia. Clin Gastroenterol Hepatol. 2009; 7(3): 359-62[DOI][PubMed]
  • 2. de Juan D, Reta A, Castiella A, Pozueta J, Prada A, Cuadrado E. HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. Eur J Hum Genet. 2001; 9(12): 961-4[DOI][PubMed]
  • 3. Bauduer F, Scribans C, Degioanni A, Renoux M, Dutour O. Distribution of the C282Y and H63D polymorphisms in hereditary hemochromatosis patients from the French Basque Country. Ann Hematol. 2005; 84(2): 99-102[DOI][PubMed]
  • 4. Castiella A, Zapata E, Zubiaurre L, Ma Alustiza J, De Juan MD, Iribarren A, et al. Impact of H63D mutations, magnetic resonance and metabolic syndrome among outpatient referrals for elevated serum ferritin in the Basque Country. Ann Hepatol. 2015; 14(3): 333-9[PubMed]
  • 5. Alustiza JM, Artetxe J, Castiella A, Agirre C, Emparanza JI, Otazua P, et al. MR quantification of hepatic iron concentration. Radiology. 2004; 230(2): 479-84[DOI][PubMed]
  • 6. Castiella A, Zapata E, de Juan MD, Otazua P, Fernandez J, Zubiaurre L, et al. Significance of H63D homozygosity in a Basque population with hemochromatosis. J Gastroenterol Hepatol. 2010; 25(7): 1295-8[DOI][PubMed]
  • 7. Adams PC. Epidemiology and diagnostic testing for hemochromatosis and iron overload. Int J Lab Hematol. 2015; 37 Suppl 1: 25-30[DOI][PubMed]
  • 8. Castiella A, Zapata E. Proven: The causative role of homozygous H63D mutation in hereditary haemochromatosis. Gastroenterol Hepatol. 2016; 39(7): 494-5[DOI][PubMed]
  • 9. Castiella A, Zapata E, Zubiaurre L, Iribarren A, Alustiza JM, Otazua P. Liver iron concentration is not raised in patients with dysmetabolic hyperferritinemia. Ann Hepatol. 2016; 15: 540-4
  • 10. Licata A, Nebbia ME, Cabibbo G, Iacono GL, Barbaria F, Brucato V, et al. Hyperferritinemia is a risk factor for steatosis in chronic liver disease. World J Gastroenterol. 2009; 15(17): 2132-8[PubMed]
  • 11. Alustiza JM, Castiella A. Liver fat and iron at in-phase and opposed-phase MR imaging. Radiology. 2008; 246(2): 641[DOI][PubMed]
  • 12. de Diego C, Opazo S, Murga MJ, Martinez-Castro P. H63D homozygotes with hyperferritinaemia: Is this genotype, the primary cause of iron overload? Eur J Haematol. 2007; 78(1): 66-71[DOI][PubMed]
  • 13. Aguilar-Martinez P, Bismuth M, Picot MC, Thelcide C, Pageaux GP, Blanc F, et al. Variable phenotypic presentation of iron overload in H63D homozygotes: are genetic modifiers the cause? Gut. 2001; 48(6): 836-42[PubMed]
  • 14. Fairbanks VF, Brandhagen DJ, Thibodeau SN, Snow K, Wollan PC. H63D is an haemochromatosis associated allele. Gut. 1998; 43(3): 441-2[PubMed]
  • 15. Cheng R, Barton JC, Morrison ED, Phatak PD, Krawitt EL, Gordon SC, et al. Differences in hepatic phenotype between hemochromatosis patients with HFE C282Y homozygosity and other HFE genotypes. J Clin Gastroenterol. 2009; 43(6): 569-73[DOI][PubMed]
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