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HFE H63D heterozygous

Jeanette N du Plooy, Janette Bester, Etheresia Pretorius
BACKGROUND: Haemochromatosis is an iron-storage disease with different genetic mutations, characterized by an increased intestinal absorption of iron, resulting in a deposition of excessive amounts of iron in parenchymal cells. When the iron is released in the blood, it is left in an unliganded form, where it can participate in Haber-Weiss and Fenton reactions, creating hydroxyl radicals. Erythrocytes (RBCs) are particularly vulnerable to hydroxyl radical damage, which can result in eryptosis (programmed cell death similar to apoptosis)...
April 14, 2018: Clinical Hemorheology and Microcirculation
Suad AlFadhli, Matra Salem, D K Shome, Najat Mahdi, Rasheeba Nizam
In this study, the potential effect of three HFE gene polymorphisms (C282Y, H63D and S65C) and the SLC40A1 A77D polymorphism on iron balance was investigated in 234 subjects (91 Arab beta-thalassemia major (BTM) patients, 34 beta-thalassemia trait (BTT) individuals and 109 health controls). Genotyping was done using restriction-fragment-length polymorphism and direct-sequencing. Serum-iron, total iron binding capacity, transferrin and ferritin were estimated in all BTT and BTM, and in 65 healthy controls. H63D was the only polymorphism detected in our cohort...
December 2017: Indian Journal of Hematology & Blood Transfusion
Mark D Meadowcroft, Jianli Wang, Carson J Purnell, Paul J Eslinger, Elizabeth B Neely, Qing X Yang, James R Connor
BACKGROUND AND PURPOSE: The H63D-HFE single nucleotide polymorphism (SNP) has been associated with brain iron dysregulation; however, the emergent role of this missense variant in brain structure and function has yet to be determined. Previous work has demonstrated that HFE SNP carriers have reduced white matter magnetic resonance imaging (MRI) proton relaxation rates. The mechanism by which white matter alterations perturb MRI relaxation is unknown as is how these metrics are related to myelin integrity...
January 2018: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
Farida H El-Rashedi, Mahmoud A El-Hawy, Sally M El-Hefnawy, Mona M Mohammed
BACKGROUND: Hereditary hemochromatosis gene (HFE) mutations have a role in iron overload in pediatric acute lymphoblastic leukemia (ALL) survivors. We aimed to evaluate the genotype frequency and allelic distribution of the two HFE gene mutations (C282Y and H63D) in a sample of Egyptian pediatric ALL survivors and to detect the impact of these two mutations on their iron profile. PATIENTS AND METHODS: This study was performed on 35 ALL survivors during their follow-up visits to the Hematology and Oncology Unit, Pediatric Department, Menoufia University Hospitals...
August 2017: Hematology (Amsterdam, Netherlands)
Patricia Bouchán-Valencia, Georgina Coeto-Barona, Fany Rosenfeld-Mann, Rocío Trueba-Gómez, Héctor Baptista-González, Mariano Rivera-Echegoyén, Gerardo Rodríguez-Terán, Octavio Martínez-Villegas
BACKGROUND: Hemoglobin D Punjab is the world most common variant hemoglobin D; in Mexico there are reports of isolated cases. Our goal is to present the clinical and molecular study in two families with HbD Punjab. The objective was to submit molecular diagnosis of two families with Hb D Punjab and clinical features. CLINICAL CASE: Family 1: neonate with maternal history of HbS carrier. Father and sister with natural variants for the evaluated mutations, mother, brother and index case were heterozygous for HbD Punjab...
November 2016: Revista Médica del Instituto Mexicano del Seguro Social
Simonas Juzėnas, Juozas Kupčinskas, Irena Valantienė, Jolanta Šumskienė, Vitalija Petrenkienė, Jūrate Kondrackienė, Laimutis Kučinskas, Gediminas Kiudelis, Jurgita Skiecevičienė, Limas Kupčinskas
BACKGROUND AND OBJECTIVE: Liver cirrhosis is the end-stage disease of chronic liver injury. Due to differences in the natural course of chronic liver diseases, identification of genetic factors that influence individual outcomes is warranted. 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. The aim of this study was to determine the association between heterozygous C282Y and H63D mutations and non-HH liver cirrhosis in Lithuanian population...
2016: Medicina
Azza Aboul Enein, Nermine A El Dessouky, Khalda S Mohamed, Shahira K A Botros, Mona F Abd El Gawad, Mona Hamdy, Nehal Dyaa
AIM: This study aimed to detect the most common HFE gene mutations (C282Y, H63D, and S56C) in Egyptian beta thalassemia major patients and its relation to their iron status. SUBJECTS AND METHODS: The study included 50 beta thalassemia major patients and 30 age and sex matched healthy persons as a control group. Serum ferritin, serum iron and TIBC level were measured. Detection of the three HFE gene mutations (C282Y, H63D and S65C) was done by PCR-RFLP analysis. Confirmation of positive cases for the mutations was done by sequencing...
June 15, 2016: Open Access Macedonian Journal of Medical Sciences
Richard D Press, Garrett Eickelberg, Thomas J McDonald, Jaimie Halley, Thomas Long, Laura J Tafe, Karen E Weck
PURPOSE: The College of American Pathologists offers blinded proficiency testing (PT) for laboratories performing HFE genetic tests for hereditary hemochromatosis (common C282Y and H63D variants). This study used 10 years of PT data to determine laboratory performance for HFE analytical genotyping and clinical interpretation. METHODS: Laboratories were graded for accuracy of genotype determination (six possible C282Y/H63D genotypes) and clinical interpretation regarding whether the genotype was likely to have contributed to iron overload in a hypothetical patient...
December 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Xiaowei W Su, Wint Nandar, Elizabeth B Neely, Zachary Simmons, James R Connor
INTRODUCTION: HMG-CoA reductase inhibitors (statins) and H63D HFE polymorphism may modify amyotrophic lateral sclerosis (ALS). We hypothesized that statins worsen phenotype in ALS mice, dependent on HFE genotype. METHODS: Mice harboring SOD1(G93A) heterozygous for H67D Hfe (homologous to human H63D HFE) were administered simvastatin and/or coenzyme Q10, and were allowed to reach end stage. Disease progression was measured by grip strength. A separate group of animals was administered simvastatin and euthanized at the symptomatic 120-day time-point...
August 2016: Muscle & Nerve
Huang Xiao-Bing, Zheng Lu, Guo Hong, Liang Ping, Li Guanghui, Liu Hongming, Han Keqiang, Li Jing
According to the results of retrieving PubMed/MEDLINE and EMBASE databases, this study summarized distributions of two commonly mutated alleles (C282Y and H63D) and genotypes in HFE gene, and considered odds ratios (ORs) as well as its 95% confidence intervals (95% CIs) as effective variables of the included study itself and after summarizing. In terms of allele, compared with individual carrying wild type (WT) allele, individual carrying C282Y allele was more likely to suffer from liver cancer, with OR and P value of 1...
January 14, 2016: Minerva Medica
Natalie Funakoshi, Iphigénie Chaze, Anne-Sophie Alary, Gaëlle Tachon, Séverine Cunat, Muriel Giansily-Blaizot, Michael Bismuth, Dominique Larrey, Georges-Philippe Pageaux, Jean-François Schved, Hélène Donnadieu-Rigole, Pierre Blanc, Patricia Aguilar-Martinez
BACKGROUND & AIMS: Iron overload (IO) in HFE-related hereditary haemochromatosis is associated with increased risk of liver cancer. This study aimed to investigate the role of other genes involved in hereditary IO among patients with hepatocellular carcinoma (HCC). METHODS: Patients with HCC diagnosed in our institution were included in this prospective study. Those with ferritin levels ≥300 μg/L (males) or ≥200 μg/L (females) and/or transferrin saturation ≥50% (males) or ≥45% (females) had liver iron concentration (LIC) evaluated by MRI...
May 2016: Liver International: Official Journal of the International Association for the Study of the Liver
Adriano Chiò, Gabriele Mora, Mario Sabatelli, Claudia Caponnetto, Christian Lunetta, Bryan J Traynor, Janel O Johnson, Mike A Nalls, Andrea Calvo, Cristina Moglia, Giuseppe Borghero, Maria Rosaria Monsurrò, Vincenzo La Bella, Paolo Volanti, Isabella Simone, Fabrizio Salvi, Francesco O Logullo, Riva Nilo, Fabio Giannini, Jessica Mandrioli, Raffaella Tanel, Maria Rita Murru, Paola Mandich, Marcella Zollino, Francesca L Conforti, Silvana Penco, Maura Brunetti, Marco Barberis, Gabriella Restagno
It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We have evaluated the effect of HFE p.His63Asp polymorphism on the phenotype in 1351 Italian ALS patients (232 of Sardinian ancestry). Patients were genotyped for the HFE p.His63Asp polymorphism (CC, GC, and GG). All patients were also assessed for C9ORF72, TARDBP, SOD1, and FUS mutations. Of the 1351 ALS patients, 363 (29...
October 2015: Neurobiology of Aging
Geane Felix De Souza, Howard Lopes Ribeiro, Juliana Cordeiro De Sousa, Fabíola Fernandes Heredia, Rivelilson Mendes De Freitas, Manoel Ricardo Alves Martins, Romélia Pinheiro Gonçalves, Ronald Feitosa Pinheiro, Silvia Maria Meira Magalhães
OBJECTIVE: A relation between transfusional IOL (iron overload), HFE status and oxidative damage was evaluated. DESIGN, SETTING AND PARTICIPANTS: An observational cross-sectional study involving 87 healthy individuals and 78 patients with myelodysplastic syndromes (MDS) with and without IOL, seen at University Hospital of the Federal University of Ceará, Brazil, between May 2010 and September 2011. METHODS: IOL was defined using repeated measures of serum ferritin ≥1000 ng/mL...
2015: BMJ Open
António Camacho, Thomas Funck-Brentano, Márcio Simão, Leonor Cancela, Sébastien Ottaviani, Martine Cohen-Solal, Pascal Richette
OBJECTIVE: Arthropathy that mimics osteoarthritis (OA) and osteoporosis (OP) is considered a complication of hereditary hemochromatosis (HH). We have limited data comparing OA and OP prevalence among HH patients with different hemochromatosis type 1 (HFE) genotypes. We investigated the prevalence of OA and OP in patients with HH by C282Y homozygosity and compound heterozygosity (C282Y/H63D) genotype. METHODS: A total of 306 patients with HH completed a questionnaire...
2015: PloS One
U Lange, J Teichmann, G Dischereit
BACKGROUND: The purpose of the study was to perform a molecular genetic analysis and to document clinical aspects in patients with hereditary hemochromatosis. PATIENTS AND METHODS: The study included 33 outpatients (23 males average age 50.6 years and 10 females average age 60.6 years) with a disorder of iron metabolism (transferrin saturation > 75 %) as confirmation of hemochromatosis who were subjected to molecular genetic and clinical analyses. RESULTS: A homozygous mutation of the hemochromatosis (HFE) gene (C282YY) was detected in 63...
August 2014: Der Orthopäde
Gioconda Dias Rodrigues Leão, Juliana Mendonça Freire, Andrea Luciana Araújo Cunha Fernandes, Taissa Maria Moura de Oliveira, Nilma Dias Leão, Erica Aires Gil, Roberto Chaves de Vasconcelos, João Paulo da Silva Azevedo, Valéria Soraya de Farias Sales, Telma Maria de Araújo Moura Lemos, Marcos Dias Leão, Francisco Fernandes do Nascimento, James Farley Rafael Maciel, Rodrigo Villar de Freitas, Aldair de Souza Paiva, Geraldo Barroso Cavalcanti
BACKGROUND: Hereditary hemochromatosis (HH) is a genetic disease caused by the high absorption and deposition of iron in several organs. This accumulation results in several clinical complications such as cirrhosis, arthritis, cardiopathies, diabetes, sexual disorders, and skin darkening. The H63D and C282Y mutations are well defined in the HH etiology. The objective of this article is identification of the H63D and C282Y mutations in the HFE protein gene and the frequency assessment of these mutations in patients with persistent increase of serum ferritin in patients from Natal City from state of Rio Grande do Norte, located in northeastern Brazil...
May 2014: Journal of Clinical Laboratory Analysis
Martin B Delatycki, Geneieve Tai, Louise Corben, Eppie M Yiu, Marguerite V Evans-Galea, Sarah E M Stephenson, Lyle Gurrin, Katrina J Allen, David Lynch, Paul J Lockhart
BACKGROUND: Friedreich ataxia (FRDA) generally results from reduced frataxin, a mitochondrial protein involved in iron metabolism. We assessed whether HFE p.C282Y and/or p.H63D heterozygosity modifies age at disease onset or disease severity in individuals with FRDA. METHODS: One hundred seventy individuals with FRDA were assessed for the association of HFE p.C282Y and p.H63D with (1) age at disease onset and (2) Friedreich Ataxia Rating Scale (FARS) score. RESULTS: After adjusting for the smaller FXN GAA repeat size and sex, individuals with FRDA and heterozygous for p...
June 2014: Movement Disorders: Official Journal of the Movement Disorder Society
Aysen Turedi, Yesim Oymak, Timur Meşe, Yöntem Yaman, Selen Bayraktaroglu, Asude Alpman, Ferda Ozkinay, Yeşim Aydınok, Canan Vergin
OBJECTIVE: We aimed to investigate the effect of human hemochromatosis protein (HFE) polymorphisms on cardiac iron overload in patients with beta-thalassemia major. METHODS: Our study included 33 patients diagnosed with beta-thalassemia major who were treated with regular transfusions and chelation therapy. M-mode, tissue Doppler, and pulsed wave Doppler echocardiography were performed on all patients. T2* magnetic resonance imaging (MRI) scans were also performed...
November 2013: Pediatric Hematology and Oncology
Christine Cézard, Amrathlal Rabbind Singh, Gérald Le Gac, Isabelle Gourlaouen, Claude Ferec, Jacques Rochette
Most adults affected with hereditary hemochromatosis are homozygous for a single point mutation of HFE (p.Cys282Tyr). Apart from the compound heterozygous state for the p.Cys282Tyr mutant and the widespread p.His63Asp variant allele, other rare HFE mutations can be found in trans and may have clinical impact. In the present report we describe the structural and functional consequences of a new mutation, namely the p.Arg226Gly which was inherited in trans with the p.Cys282Tyr allele in a patient affected with a mild iron overload...
January 2014: Blood Cells, Molecules & Diseases
Steven E Lipshultz, Stuart R Lipsitz, Jeffery L Kutok, Tracie L Miller, Steven D Colan, Donna S Neuberg, Kristen E Stevenson, Mark D Fleming, Stephen E Sallan, Vivian I Franco, Jacqueline M Henkel, Barbara L Asselin, Uma H Athale, Luis A Clavell, Bruno Michon, Caroline Laverdiere, Eric Larsen, Kara M Kelly, Lewis B Silverman
BACKGROUND: Doxorubicin is associated with progressive cardiac dysfunction, possibly through the formation of doxorubicin-iron complexes leading to free-radical injury. The authors determined the frequency of hemochromatosis (HFE) gene mutations associated with hereditary hemochromatosis and their relationship with doxorubicin-associated cardiotoxicity in survivors of childhood high-risk acute lymphoblastic leukemia. METHODS: Peripheral blood was tested for 2 common HFE allelic variants: C282Y and H63D...
October 1, 2013: Cancer
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