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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Greaves, Ronda / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter


IMPACT FACTOR 2018: 3.638

CiteScore 2018: 2.44

SCImago Journal Rank (SJR) 2018: 1.191
Source Normalized Impact per Paper (SNIP) 2018: 1.205

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1437-4331
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Reverse-hybridization resolves a rare HFE genotype untypable by real-time PCR and melting curve analysis in a patient with hyperferritinemia and alcoholic liver disease

Dietmar Enko
  • Institute of Clinical Chemistry and Laboratory Medicine, General Hospital Steyr, Steyr, Austria
  • Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University Graz, Graz, Austria
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Michael Novy / Christian Oberkanins / Gernot Kriegshäuser
  • Corresponding author
  • Institute of Clinical Chemistry and Laboratory Medicine, General Hospital Steyr, Sierninger Straße 170, 4400 Steyr, Austria
  • Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University Graz, Graz, Austria, Phone: +43 50554 66 25308, Fax: +43 50554 66 25304
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2019-02-23 | DOI: https://doi.org/10.1515/cclm-2018-1260

References

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    Powell LW, Seckington RC, Deugnier Y. Haemochromatosis. Lancet 2016;388:706–16.PubMedCrossrefGoogle Scholar

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    Aguilar-Martinez P, Schved JF, Brissot P. The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities. Am J Gastroenterol 2005;100:1185–94.CrossrefPubMedGoogle Scholar

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    Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, Delatycki MB, Nicoll AJ, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008;358:221–30.CrossrefPubMedGoogle Scholar

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    Aguilar-Martinez P, Grandchamp B, Cunat S, Cadet E, Blanc F, Nourrit M, et al. Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants. Haematologia 2011;96:507–14.CrossrefGoogle Scholar

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    Cherfane CE, Hollenbeck RD, Go J, Brown KE. Hereditary hemochromatosis: missed diagnosis or misdiagnosis? Am J Med 2013;126:1010–15.PubMedCrossrefWeb of ScienceGoogle Scholar

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    de Villiers JN, Hillermann R, Loubser L, Kotze MJ. Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. Hum Mol Genet 1999;8:1517–22.CrossrefPubMedGoogle Scholar

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    Costa-Matos L, Batista P, Monteiro N, Henriques P, Girão F, Carvalho A. Hfe mutations and iron overload in patients with alcoholic liver disease. Arg Gastroenterol 2013;50:35–41.CrossrefGoogle Scholar

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    Sebastiani G, Walker AP. HFE gene in primary and secondary hepatic iron overload. World J Gastroenterol 2007;13:4673–89.PubMedWeb of ScienceCrossrefGoogle Scholar

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    Machado MV, Ravasco P, Martins A, Almeida MR, Camilo ME, Cortez-Pinto H. Iron homeostasis and H63D mutations in alcoholics with and without liver disease. World J Gastroenterol 2009;15:106–11.PubMedCrossrefWeb of ScienceGoogle Scholar

About the article

Received: 2018-11-26

Accepted: 2019-02-07

Published Online: 2019-02-23


Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


Citation Information: Clinical Chemistry and Laboratory Medicine (CCLM), 20181260, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/cclm-2018-1260.

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