Survey of HFE Gene C282Y Mutation in Turkish Beta-Thalassemia Patients and Healthy Population: A Preliminary Study by Selma Ünal, Günay Balta, Fatma Gümrük

“…CONCLUSION: The C282Y mutation, which is supposed to be responsible for the majority of hereditary hemochromatosis, was not found to have a role in the development of hemochromatosis in beta-thalassemia patients and was not detected in a healthy Turkish population. …”
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Hemochromatosis (HFE) gene mutations in Brazilian chronic hemodialysis patients by F.V. Perícole, M.A.V.R. Alves, S.T.O. Saad, F.F. Costa

“…Patients with chronic renal insufficiency (CRI) have reduced hemoglobin levels, mostly as a result of decreased kidney production of erythropoietin, but the relation between renal insufficiency and the magnitude of hemoglobin reduction has not been well defined. Hereditary hemochromatosis is an inherited disorder of iron metabolism. …”
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Hepatocellular carcinoma: epidemiology and risk factors by Kew MC

“…Excessive iron accumulation in hereditary hemochromatosis and dietary iron overload in the Black African population and membranous obstruction of the inferior cava cause the tumor in a few countries. …”
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Restrictive cardiomyopathy: from genetics and clinical overview to animal modeling by Michelle Chintanaphol, Buyan-Ochir Orgil, Neely R. Alberson, Jeffrey A. Towbin, Enkhsaikhan Purevjav

“…RCM can be idiopathic, familial, or secondary to a systemic disorder, such as amyloidosis, sarcoidosis, and hereditary hemochromatosis. Approximately 30% of cases are familial RCM, and the genes that have been linked to RCM are cTnT, cTnI, MyBP-C, MYH7, MYL2, MYL3, DES, MYPN, TTN, BAG3, DCBLD2, LNMA, and FLNC. …”
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Parkinson’s Disease and Metal Storage Disorders: A Systematic Review by Edward Botsford, Jayan George, Ellen E. Buckley

“…The most frequently identified MSDs were Pantothenate kinase-associated neurodegeneration (PKAN) with 11 papers describing Parkinsonism, Hereditary hemochromatosis (HH) (7 papers), and Wilson’s disease (6 papers). …”
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Joint manifestations revealing inborn metabolic diseases in adults: a narrative review by Amaury Loret, Claire Jacob, Saloua Mammou, Adrien Bigot, Hélène Blasco, Alexandra Audemard-Verger, Ida VD Schwartz, Denis Mulleman, François Maillot

“…Unspecific arthralgias are often the first symptoms of hereditary hemochromatosis, chronic low back pain may reveal an intervertebral disc calcification in relation with alkaptonuria, and progressive joint stiffness may correspond to a mucopolysaccharidosis or mucolipidosis. …”
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Frequency of common <it>HFE </it>variants in the Saudi population: a high throughput molecular beacon-based study by Al-Hamed Mohamed, Al-Kayal Fadi, Alsmadi Osama A, Meyer Brian F

“…<p>Abstract</p> <p>Background</p> <p>Hereditary Hemochromatosis (HH) is an autosomal recessive disorder highlighted byiron-overload. …”
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Chronic hepatitis B complicated with secondary hemochromatosis was cured clinically: A case report by Ye Yun, Xie Jing, Wang Lina, He Cong, Tan Youwen

“…Two genetic tests ruled out hereditary hemochromatosis. The patient was diagnosed with SH and treated with 400 ml bloodletting once per week and an iron-chelating agent. …”
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Studies at the hemochromatosis (HFE) locus : gene conversions, haplotypes, and association analysis by Kamihara-Ting, Junne

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Association between the HFE C282Y, H63D Polymorphisms and the Risks of Non-Alcoholic Fatty Liver Disease, Liver Cirrhosis and Hepatocellular Carcinoma: An Updated Systematic Review... by Qing Ye, Bao-Xin Qian, Wei-Li Yin, Feng-Mei Wang, Tao Han

“…BACKGROUND:Conflicting results have been obtained for the association between two common polymorphisms (C282Y, H63D) of human HFE (hereditary hemochromatosis) gene and the risks of the liver diseases, including non-alcoholic fatty liver disease (NAFLD), liver cirrhosis and hepatocellular carcinoma (HCC). …”
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Tissue‐Specific Regulation of Ferroportin in Wild‐Type and Hjv‐/‐ Mice Following Dietary Iron Manipulations by Angeliki Katsarou, Konstantinos Gkouvatsos, Carine Fillebeen, Kostas Pantopoulos

“…Genetic hepcidin inactivation leads to hereditary hemochromatosis, a disease of iron overload. We used wild‐type and Hjv‐/‐ mice, a model of hemochromatosis, to examine the expression of ferroportin and other proteins of iron metabolism in hepcidin target tissues. …”
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Hepcidin Signaling in Health and Disease: Ironing Out the Details by Kris V. Kowdley, Eric M. Gochanour, Vinay Sundaram, Raj A. Shah, Priya Handa

“…The bone morphogenetic protein (BMP)–mothers against decapentaplegic homolog (SMAD) pathway is a major positive driver of hepcidin expression in response to either increased circulating iron in the form of transferrin or iron loading in organs. Hereditary hemochromatosis (HH) consists of several inherited disorders that cause inappropriately reduced hepcidin expression in response to body iron stores, leading to increased iron absorption from a normal diet. …”
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Phytic Acid Protects from Oxidative Stress Induced by Iron-Overload and High-Fat Diets in ß2-Microglobulin Knockout Mice by Sixtus Aguree, Ling Guo, Manju B. Reddy

“…The objective of this study was to examine the protective effect of phytic acid (PA) in reducing oxidative stress in an animal model for human hereditary hemochromatosis (HH) fed high-fat diets. Sixty-four ß2 microglobulin knockout (β2m KO) mice were randomly assigned to three treatments by feeding: control (basal), atherogenic (AT), and polyunsaturated fatty acid (PUFA) diets. …”
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HLA ANTIGENS OF ARAB CHRISTIANS IN IRAQ by Batool M. Mahdi, khalida M. Moussawy, Abdul wahab A.R. Al-shaikhly, Ali H. Ad;'haib

“…A3 had been found to be associated with Hereditary Hemochromatosis (HH) but the risk increased when there is a linkage disequilibrium between A3/B14. …”
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Iron Overload, Oxidative Stress and Calcium Mishandling in Cardiomyocytes: Role of the Mitochondrial Permeability Transition Pore by Richard Gordan, Nadezhda Fefelova, Judith K. Gwathmey, Lai-Hua Xie

“…Iron (Fe) plays an essential role in many physiological processes. Hereditary hemochromatosis or frequent blood transfusions often cause iron overload (IO), which can lead to cardiomyopathy and arrhythmias; however, the underlying mechanism is not well defined. …”
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Carriers of the Complex Allele HFE c.[187C>G;340+4T>C] Have Increased Risk of Iron Overload in São Miguel Island Population (Azores, Portugal). by Claudia C Branco, Cidália T Gomes, Laura De Fez, Sara Bulhões, Maria José Brilhante, Tânia Pereirinha, Rita Cabral, Ana Catarina Rego, Cristina Fraga, António G Miguel, Gracinda Brasil, Paula Macedo, Luisa Mota-Vieira

“…Iron overload is associated with acquired and genetic conditions, the most common being hereditary hemochromatosis (HH) type-I, caused by HFE mutations. …”
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Mitochondrial DNA damage associated with lipid peroxidation of the mitochondrial membrane induced by Fe2+-citrate by Andréa M. Almeida, Clélia R.A. Bertoncini, Jiri Borecký, Nadja C. Souza-Pinto, Aníbal E. Vercesi

“…Iron imbalance/accumulation has been implicated in oxidative injury associated with many degenerative diseases such as hereditary hemochromatosis, beta-thalassemia, and Friedreich's ataxia. …”
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The polymorphic locus rs1799945 of the <i>HFE</i> gene determines the risk of severe preeclampsia by Maria Yu. Abramova, Irina V. Ponomarenko, Valentina S. Orlova, Irina V. Batlutskaya, Olga A. Efremova, Mikhail I. Churnosov

“…The rs1799945 locus of the HFE gene determines the missense mutation (aspartic acid replaces the amino acid histidine at position 63 in the Hereditary hemochromatosis protein) with the BENIGN predictor potential. …”
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Association of HFE gene C282Y and H63D mutations with liver cirrhosis in the Lithuanian population by Simonas Juzėnas, Juozas Kupčinskas, Irena Valantienė, Jolanta Šumskienė, Vitalija Petrenkienė, Jūrate Kondrackienė, Laimutis Kučinskas, Gediminas Kiudelis, Jurgita Skiecevičienė, Limas Kupčinskas

“…HFE-linked hereditary hemochromatosis (HH) predisposes disease progression to cirrhosis; however, the role of heterozygous C282Y or H63D mutations in the development of cirrhosis in the presence of other etiological factors is still debated. …”
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A study of 82 extended HLA haplotypes in <it>HFE</it>-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of ir... by Lacerda Rosa, Almeida Susana, Vieira Jorge, Cruz Eugénia, Gartner Andrea, Cardoso Carla S, Alves Helena, Porto Graça

“…</p> <p>Conclusion</p> <p>The present study provides evidence supporting an inextricable link between extended HLA haplotypes, CD8+ T-lymphocyte numbers and severity of iron overload in hereditary hemochromatosis(HH). It gives additional information to better define a candidate region involved in the regulation of CD8+ T-lymphocyte numbers. …”
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