title: Iron overload and HFE gene mutations in Polish patients with liver cirrhosis.
abstract: BACKGROUND
  Increased liver iron stores may contribute to the progression of liver injury and fibrosis, and are associated with a higher risk of hepatocellular carcinoma development. Pre-transplant symptoms of iron overload in patients with liver cirrhosis are associated with higher risk of infectious and malignant complications in liver transplant recipients. HFE gene mutations may be involved in the pathogenesis of liver iron overload and influence the progression of chronic liver diseases of different origins. This study was designed to determine the prevalence of iron overload in relation to HFE gene mutations among Polish patients with liver cirrhosis.
  
  
  METHODS
  Sixty-one patients with liver cirrhosis included in the study were compared with a control group of 42 consecutive patients subjected to liver biopsy because of chronic liver diseases. Liver function tests and serum iron markers were assessed in both groups. All patients were screened for HFE mutations (C282Y, H63D, S65C). Thirty-six of 61 patients from the study group and all controls had liver biopsy performed with semiquantitative assessment of iron deposits in hepatocytes.
  
  
  RESULTS
  The biochemical markers of iron overload and iron deposits in the liver were detected with a higher frequency (70% and 47% respectively) in patients with liver cirrhosis. There were no differences in the prevalence of all HFE mutations in both groups. In patients with a diagnosis of hepatocellular carcinoma, no significant associations with iron disorders and HFE gene mutations were found.
  
  
  CONCLUSIONS
  Iron disorders were detected in patients with liver cirrhosis frequently but without significant association with HFE gene mutations. Only the homozygous C282Y mutation seems to occur more frequently in the selected population of patients with liver cirrhosis. As elevated biochemical iron indices accompanied liver iron deposits more frequently in liver cirrhosis compared to controls with chronic liver disease, there is a need for more extensive studies searching for the possible influence of non-HFE iron homeostasis regulators and their modulation on the course of chronic liver disease and liver cirrhosis.
authors.affiliation: Department of Infectious Diseases, Medical University of Gdansk, ul. Smoluchowskiego 18, 80-218 Gdansk, Poland. ksikorska@gumed.edu.pl
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Sikorska
authors.forename: Tomasz
authors.initials: T
authors.lastname: Romanowski
authors.forename: Piotr
authors.initials: P
authors.lastname: Stalke
authors.forename: Ewa
authors.initials: E
authors.lastname: Iżycka-Świeszewska
authors.forename: Krzysztof Piotr
authors.initials: KP
authors.lastname: Bielawski
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D001706:Biopsy; D006528:Carcinoma, Hepatocellular / Q000453:epidemiology / Q000235:genetics; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006432:Hemochromatosis / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D019190:Iron Overload / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008111:Liver Function Tests; D008113:Liver Neoplasms / Q000453:epidemiology / Q000235:genetics; D016015:Logistic Models; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011044:Poland / Q000453:epidemiology; D015995:Prevalence; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D015415:Biomarkers; C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins