Articles with "hereditary hemochromatosis" as a keyword



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Systematic Review of the Clinical Outcomes of Iron Reduction in Hereditary Hemochromatosis

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Published in 2020 at "Hepatology"

DOI: 10.1002/hep.31405

Abstract: Hereditary Hemochromatosis is a condition caused by defects in iron-sensing genes leading to parenchymal iron loading. If diagnosed early and treated appropriately, many of the complications, including liver fibrosis, cirrhosis and liver cancer, arthritis, cardiomyopathy… read more here.

Keywords: reduction; systematic review; hereditary hemochromatosis; iron reduction ... See more keywords
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Cardiac Magnetic Resonance at 3.0 T in Patients With C282Y Homozygous Hereditary Hemochromatosis

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Published in 2022 at "Journal of Thoracic Imaging"

DOI: 10.1097/rti.0000000000000645

Abstract: Background: Iron-overload cardiomyopathy initially manifests with diastolic dysfunction and can progress to dilated cardiomyopathy if untreated. Previous studies have shown that patients with primary and secondary hemochromatosis can have subclinical left ventricle dysfunction with abnormalities… read more here.

Keywords: magnetic resonance; hereditary hemochromatosis; strain; range ... See more keywords
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Transient elevation of serum ferritin in a Sri Lankan with homozygosity for H63D mutation in the HFE gene: a case report

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Published in 2020 at "Journal of Medical Case Reports"

DOI: 10.1186/s13256-020-02428-3

Abstract: Hereditary hemochromatosis is an inherited disorder of iron metabolism, characterized by excessive iron deposition in major organs of the body, leading to multi-organ dysfunction. It is a genetically heterogeneous disease caused by mutations in one… read more here.

Keywords: h63d mutation; gene; hereditary hemochromatosis; mutation ... See more keywords
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Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient’s profile submitted to phlebotomy in two reference centers in southern Brazil

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Published in 2023 at "Genetics and Molecular Biology"

DOI: 10.1590/1678-4685-gmb-2022-0230

Abstract: Abstract Hereditary Hemochromatosis is a disorder characterized by iron deposition in several organs and hyperferritinemia. The most studied variants are linked to the HFE gene. In Brazil, surveys that characterize this population are scarce, with… read more here.

Keywords: hereditary hemochromatosis; beyond hyperferritinemia; hemochromatosis beyond; hemochromatosis ... See more keywords
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New thiazolidinones reduce iron overload in mouse models of hereditary hemochromatosis and β-thalassemia

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Published in 2019 at "Haematologica"

DOI: 10.3324/haematol.2018.209874

Abstract: Genetic iron-overload disorders, mainly hereditary hemochromatosis and untransfused β-thalassemia, affect a large population worldwide. The primary etiology of iron overload in these diseases is insufficient production of hepcidin by the liver, leading to excessive intestinal… read more here.

Keywords: iron; hemochromatosis thalassemia; hereditary hemochromatosis; iron overload ... See more keywords
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Twenty-Five Years of Contemplating Genotype-Based Hereditary Hemochromatosis Population Screening

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Published in 2022 at "Genes"

DOI: 10.3390/genes13091622

Abstract: Hereditary hemochromatosis (HH) is a rather frequent, preventable disease because the progressive iron overload affecting many organs can be effectively reduced by phlebotomy. Even before the discovery of the major gene, HFE, in 1996, hemochromatosis… read more here.

Keywords: hereditary hemochromatosis; twenty five; hemochromatosis; genotype based ... See more keywords
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Protein Susceptibility to Peroxidation by 4-Hydroxynonenal in Hereditary Hemochromatosis

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Published in 2023 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24032922

Abstract: Iron overload caused by hereditary hemochromatosis (HH) increases free reactive oxygen species that, in turn, induce lipid peroxidation. Its 4-hydroxynonenal (HNE) by-product is a well-established marker of lipid peroxidation since it reacts with accessible proteins… read more here.

Keywords: peroxidation hydroxynonenal; hereditary hemochromatosis; protein susceptibility; hne ... See more keywords