HFE gene mutations in Polish patients with disturbances of iron metabolism: An initial assessment

  • Authors:
    • Katarzyna Sikorska
    • Krzysztof Piotr Bielawski
    • Piotr Stalke
    • Elzbieta Anna Lakomy
    • Zofia Michalska
    • Krystyna Witczak-Malinowska
    • Tomasz Romanowski
  • View Affiliations

  • Published online on: December 1, 2005     https://doi.org/10.3892/ijmm.16.6.1151
  • Pages: 1151-1156
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Abstract

Hereditary hemochromatosis is one of the most frequent genetic disorders in Europeans, but its prevalence in Poland is still unknown. The aim of the study was an initial assessment of the prevalence of C282Y and H62D HFE gene mutations and their influence on the course of chronic hepatitis C. Forty-one patients were admitted to the Department of Infectious Diseases, Medical University of Gdansk in 2000-2004 because of chronic liver diseases with accompanying disturbances in iron metabolism. Genetic tests for the C282Y and H63D mutations were performed by PCR and restriction fragment length polymorphism (PCR-RFLP) analysis. The HFE gene mutations were confirmed in 24 of 41 (59%) cases with symptoms of chronic liver disease and iron overload, significantly more frequently in HCV-negative patients (12/14 vs. 12/27; χ2=8.28; p=0.05). The C282Y and H63D HFE gene mutations were detected in 16 of 41 (39%) and 9 of 41 (22%) cases, respectively. HCV-negative patients were C282Y carriers significantly more frequently than HCV-positive patients [9/14 vs. 2/27 C282Y homozygotes; 2/14 vs. 3/27 C282Y heterozygotes (p<0.0001)]. The carrier state of the H63D HFE gene mutation was not significantly more frequent in HCV-positive than HCV-negative patients. HCV infection seems to be a negative predictive marker of HFE gene mutations in patients with iron overload. The relationship of H63D HFE gene mutations with chronic hepatitis C and the possible influence of HCV infection on iron metabolism needs further analysis.

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December 2005
Volume 16 Issue 6

Print ISSN: 1107-3756
Online ISSN:1791-244X

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Spandidos Publications style
Sikorska K, Bielawski KP, Stalke P, Lakomy EA, Michalska Z, Witczak-Malinowska K and Romanowski T: HFE gene mutations in Polish patients with disturbances of iron metabolism: An initial assessment. Int J Mol Med 16: 1151-1156, 2005
APA
Sikorska, K., Bielawski, K.P., Stalke, P., Lakomy, E.A., Michalska, Z., Witczak-Malinowska, K., & Romanowski, T. (2005). HFE gene mutations in Polish patients with disturbances of iron metabolism: An initial assessment. International Journal of Molecular Medicine, 16, 1151-1156. https://doi.org/10.3892/ijmm.16.6.1151
MLA
Sikorska, K., Bielawski, K. P., Stalke, P., Lakomy, E. A., Michalska, Z., Witczak-Malinowska, K., Romanowski, T."HFE gene mutations in Polish patients with disturbances of iron metabolism: An initial assessment". International Journal of Molecular Medicine 16.6 (2005): 1151-1156.
Chicago
Sikorska, K., Bielawski, K. P., Stalke, P., Lakomy, E. A., Michalska, Z., Witczak-Malinowska, K., Romanowski, T."HFE gene mutations in Polish patients with disturbances of iron metabolism: An initial assessment". International Journal of Molecular Medicine 16, no. 6 (2005): 1151-1156. https://doi.org/10.3892/ijmm.16.6.1151