scholarly journals Prevalence and clinical implications of HFE gene mutations (C282Y and H63D) in patients with chronic hepatitis B and C in Taiwan

2005 ◽  
Vol 25 (2) ◽  
pp. 214-219 ◽  
Author(s):  
Yone-Han Mah ◽  
Jia-Horng Kao ◽  
Chun-Jen Liu ◽  
Chi-Ling Chen ◽  
Pei-Jer Chen ◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis B ◽  
Chronic Hepatitis B ◽  
Gene Mutations ◽  
Hfe Gene ◽  
Clinical Implications ◽  
Hfe Gene Mutations

scholarly journals Effect of HFE gene polymorphism on sustained virological response in patients with chronic hepatitis C and elevated serum ferritin

2012 ◽  
Vol 49 (1) ◽  
pp. 9-13 ◽  
Author(s):  
Silvia Coelho-Borges ◽  
Hugo Cheinquer ◽  
Fernando Herz Wolff ◽  
Nelson Cheinquer ◽  
Luciano Krug ◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis C ◽  
Sustained Virological Response ◽  
Chronic Hepatitis C ◽  
Serum Ferritin ◽  
Virological Response ◽  
Elevated Serum ◽  
Gene Mutations ◽  
Hfe Gene ◽  
Hfe Gene Mutations

CONTEXT: Abnormal serum ferritin levels are found in approximately 20%-30% of the patients with chronic hepatitis C and are associated with a lower response rate to interferon therapy. OBJECTIVE: To determine if the presence of HFE gene mutations had any effect on the sustained virological response rate to interferon based therapy in chronic hepatitis C patients with elevated serum ferritin. METHODS: A total of 44 treatment naÏve patients with histologically demonstrated chronic hepatitis C, all infected with hepatitis C virus genotype non-1 (38 genotype 3; 6 genotype 2) and serum ferritin above 500 ng/mL were treated with interferon (3 MU, 3 times a week) and ribavirin (1.000 mg, daily) for 24 weeks. RESULTS: Sustained virological response was defined as negative qualitative HCV-RNA more than 24 weeks after the end of treatment. Serum HCV-RNA was measured by qualitative in house polymerase chain reaction with a limit of detection of 200 IU/mL. HFE gene mutation was detected using restriction-enzyme digestion with RsaI (C282Y mutation analysis) and BclI (H63D mutation analysis) in 16 (37%) patients, all heterozygous (11 H63D, 2 C282Y and 3 both). Sustained virological response was achieved in 0 of 16 patients with HFE gene mutations and 11 (41%) of 27 patients without HFE gene mutations (P = 0.002; exact Fisher test). CONCLUSION: Heterozigozity for H63D and/or C282Y HFE gene mutation predicts absence of sustained virological response to combination treatment with interferon and ribavirin in patients with chronic hepatitis C, non-1 genotype and serum ferritin levels above 500 ng/mL.

scholarly journals Chronic hepatitis B in children carried out of the hemochromatosis gene HFE

2021 ◽  
Vol 13 (2) ◽  
pp. 108-114
Author(s):  
F. I. Inoyatova ◽  
Kh. M. Kadyrkhodzhayeva ◽  
G. Z. Inogamova ◽  
N. A. Ikramova ◽  
F. G. Abdullayeva ◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis B ◽  
Life Expectancy ◽  
Iron Overload ◽  
Chronic Hepatitis B ◽  
Transferrin Saturation ◽  
Hfe Gene ◽  
Mild Degree ◽  
Hemochromatosis Gene ◽  
Severe Degree

Purpose: to establish the frequency and clinical significance of mutant variations of the HFE gene polymorphism in chronic hepatitis B (CHB) in children with iron overload syndrome (IOS).Materials and methods: 60 children with chronic hepatitis B with iron overload syndrome (IOS) were examined. When distributing children into groups, we took into account the criteria we developed for assessing the degree of life expectancy in children with CHB: CST>0.5 – mild degree of life expectancy (43,3% of children), CST˃0.5 – mild degree of life expectancy (43,3% of children), CST˂0,5 – moderate severity of life expectancy (31,7% of children) and CST˂0,2 – severe degree of SPL (25,0%). Virological verification of HBV was performed by ELISA and PCR. Using PCR Real Time and molecular genetic analysis, HFE gene C282Y, H63D, S65C mutations were detected from amplified DNA using the PRONTO Hemochromatosis reagent kit (Israel). The transferrin saturation coefficient (CST) was calculated using the formula CST = sTfR / log10.Ft. Results:Results: The study of the hemochromatosis gene HFE showed that the overwhelming majority (84,0%) of children with CHB with IOS were carriers of heterozygous, phenotypically different, mutant types. And only 16,0% of sick children were homozites of the wild (normal) HFE gene. Analysis of the phenotypic polymorphism of the hemochromatosis gene HFE revealed the presence of three point heterozygous mutations: H63D, S65C and combined variations in H63D / S65C, the latter of which is associated with severe forms of CHB and severe IOS.Conclusion. Children with CHB with IOS are characterized by a high incidence of heterozygous mutations in the HFE gene, the phenotypic manifestations of which were S65C, H63D, H63D / S65C. The comparability of the heterozygous combined mutation H63D / S65C with severe forms of CHB and a severe degree of IOS gives grounds to consider this phenotype of the HFE gene as a factor in the progression of the disease.

Clinical implications of serumWisteria floribundaagglutinin-positive Mac-2-binding protein in treatment-naïve chronic hepatitis B

2016 ◽  
Vol 47 (2) ◽  
pp. 204-215 ◽  
Author(s):  
Akio Ishii ◽  
Hiroki Nishikawa ◽  
Hirayuki Enomoto ◽  
Yoshinori Iwata ◽  
Kyohei Kishino ◽  
...  
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis B ◽  
Chronic Hepatitis B ◽  
Binding Protein ◽  
Clinical Implications ◽  
Treatment Naïve

scholarly journals Clinical Implications of Hepatitis B Virus RNA and Covalently Closed Circular DNA in Monitoring Patients with Chronic Hepatitis B Today with a Gaze into the Future: The Field Is Unprepared for a Sterilizing Cure

Genes ◽  
2018 ◽  
Vol 9 (10) ◽  
pp. 483 ◽  
Author(s):  
Anastasiya Kostyusheva ◽  
Dmitry Kostyushev ◽  
Sergey Brezgin ◽  
Elena Volchkova ◽  
Vladimir Chulanov
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis B Virus ◽  
Hepatitis B ◽  
Chronic Hepatitis B ◽  
Splice Variants ◽  
Clinical Implications ◽  
Circular Dna ◽  
Covalently Closed Circular Dna ◽  
Chronic Hepatitis B Virus ◽  
B Virus

. Chronic hepatitis B virus (HBV) infection has long remained a critical global health issue. Covalently closed circular DNA (cccDNA) is a persistent form of the HBV genome that maintains HBV chronicity. Decades of extensive research resulted in the two therapeutic options currently available: nucleot(s)ide analogs and interferon (IFN) therapy. A plethora of reliable markers to monitor HBV patients has been established, including the recently discovered encapsidated pregenomic RNA in serum, which can be used to determine treatment end-points and to predict the susceptibility of patients to IFN. Additionally, HBV RNA splice variants and cccDNA and its epigenetic modifications are associated with the clinical course and risks of hepatocellular carcinoma (HCC) and liver fibrosis. However, new antivirals, including CRISPR/Cas9, APOBEC-mediated degradation of cccDNA, and T-cell therapies aim at completely eliminating HBV, and it is clear that the diagnostic arsenal for defining the long-awaited sterilizing cure is missing. In this review, we discuss the currently available tools for detecting and measuring HBV RNAs and cccDNA, as well as the state-of-the-art in clinical implications of these markers, and debate needs and goals within the context of the sterilizing cure that is soon to come.

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