Abstract

Background:Hereditary hemochromatosis is a genetic disease defined by enhanced overloading of iron and associated with Chronic Hepatitis C (CHC). This study aims to evaluate the correlation of the HFE gene mutations on Egyptian CHC with liver disease progression and the risk of HCC development. Methods:The HFE mutations (C282Y and H63D) were genotyped on 100 CHC patients and 50 healthy individuals by a hybridization assay. The serum iron content was also measured for all subjects. Results:A significant elevation of the serum iron, ferritin, and TIBC in HCV-infected patients (p≤0.05). The H63D mutation was detected in 23% of the all studied samples. The serum iron and the H63D heterozygosity were correlated significantly between non-cirrhotic and cirrhotic without HCC patients. Conclusion:The H63D heterozygosity might have a potential role in iron accumulation. Moreover, HFE mutations did not tend to be associated with an increased risk of HCC in cirrhotic patients.

Highlights

  • Infection with hepatitis C virus (HCV) is one of the most predominant causes of chronic liver disease, infecting 71.1 million individuals, about 700,000 deaths worldwide annually (Masavuli et al, 2019)

  • This study aims to evaluate the correlation of the HFE gene mutations on Egyptian Chronic Hepatitis C (CHC) with liver disease progression and the risk of hepatocellular carcinoma (HCC) development

  • Subjects The current study performed from April 2015 to February 2016 on 150 participants and the enrollment subjects were categorized into 4 groups: 1) Normal individuals (n= 50) had generally normal laboratory test values, no signs of chronic liver disease and no evidence of HBV (HBsAg, HBcAg) or HCV Ab. 2) Patients with non-cirrhotic chronic hepatitis C (n=18) with fibrosis stage

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Summary

Introduction

Infection with hepatitis C virus (HCV) is one of the most predominant causes of chronic liver disease, infecting 71.1 million individuals, about 700,000 deaths worldwide annually (Masavuli et al, 2019). Hepcidin levels in CHC patients are strongly associated with serum ferritin and the histological iron score (Girelli et al, 2009). Hereditary hemochromatosis is a genetic disease defined by enhanced overloading of iron and associated with Chronic Hepatitis C (CHC). This study aims to evaluate the correlation of the HFE gene mutations on Egyptian CHC with liver disease progression and the risk of HCC development. Results: A significant elevation of the serum iron, ferritin, and TIBC in HCV-infected patients (p≤0.05). The serum iron and the H63D heterozygosity were correlated significantly between non-cirrhotic and cirrhotic without HCC patients. HFE mutations did not tend to be associated with an increased risk of HCC in cirrhotic patients

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