4.7 Article

The ancestral haplotype markers HLA-A3 and B7 do not influence the likelihood of advanced hepatic fibrosis or cirrhosis in HFE hemochromatosis

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Hematology

Hemochromatosis classification: update and recommendations by the BIOIRON Society

Domenico Girelli et al.

Summary: Hemochromatosis is a genetically heterogenous disorder characterized by uncontrolled intestinal iron absorption leading to iron overload and potentially life-threatening complications. Recent research has identified mutations in at least 5 genes as the main cause of the disease, affecting hepcidin production or action.
Review Medicine, General & Internal

Hemochromatosis

John K. Olynyk et al.

NEW ENGLAND JOURNAL OF MEDICINE (2022)

Article Genetics & Heredity

HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity

James C. Barton et al.

Summary: This study found that an A*03-linked locus does not influence phenotypes in referred HFE p.C282Y homozygotes, suggesting that heritable factors linked to the hemochromatosis ancestral haplotype may not modify the phenotypes of p.C282Y homozygotes.

HEREDITAS (2022)

Article Gastroenterology & Hepatology

Utility of Serum Biomarker Indices for Staging of Hepatic Fibrosis Before and After Venesection in Patients With Hemochromatosis Caused by Variants in HFE

Justin Chin et al.

Summary: In a retrospective study of 181 subjects with HFE-associated hemochromatosis, APRI and FIB-4 scores were able to identify patients with advanced hepatic fibrosis with 81% accuracy. APRI scores may also serve as a tool to monitor fibrosis regression following venesection therapy.

CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2021)

Review Oncology

Revisiting hemochromatosis: genetic vs. phenotypic manifestations

Gregory J. Anderson et al.

Summary: Iron overload disorders, especially HFE-related hemochromatosis, are influenced by environmental, genetic, and physiological factors, leading to variable phenotypes. Men are more susceptible to severe disease manifestations, while lifestyle factors and genetic polymorphisms also play a role in iron loading and disease expression. Other genes and co morbidities can affect tissue pathology propensity, even if they do not directly impact iron levels.

ANNALS OF TRANSLATIONAL MEDICINE (2021)

Article Gastroenterology & Hepatology

ACG Clinical Guideline: Hereditary Hemochromatosis

Kris V. Kowdley et al.

AMERICAN JOURNAL OF GASTROENTEROLOGY (2019)

Review Hematology

Liver iron sensing and body iron homeostasis

Chia-Yu Wang et al.

Article Medicine, General & Internal

Haemochromatosis

Pierre Brissot et al.

NATURE REVIEWS DISEASE PRIMERS (2018)

Article Medicine, Research & Experimental

Iron loading in HFE p.C282Y homozygotes found by population screening: relationships to HLA-type and T-lymphocyte subsets

Ketil Thorstensen et al.

SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION (2017)

Article Hematology

Identification of new BMP6 pro-peptide mutations in patients with iron overload

Chiara Piubelli et al.

AMERICAN JOURNAL OF HEMATOLOGY (2017)

Article Gastroenterology & Hepatology

Patatin-like phospholipase domain containing-3 gene I148M polymorphism, steatosis, and liver damage in hereditary hemochromatosis

Luca Valenti et al.

WORLD JOURNAL OF GASTROENTEROLOGY (2012)

Article Medicine, General & Internal

Iron-overload-related disease in HFE hereditary hemochromatosis

Katrina J. Allen et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Article Hematology

The HLA-A1-B8 haplotype hitchhiking with the hemochromatosis mutation: does it affect the phenotype?

K. Sigvard Olsson et al.

EUROPEAN JOURNAL OF HAEMATOLOGY (2007)

Article Medicine, General & Internal

Hemochromatosis and iron-overload screening in a racially diverse population

PC Adams et al.

NEW ENGLAND JOURNAL OF MEDICINE (2005)