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HFE H63D

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https://www.readbyqxmd.com/read/29075067/the-effects-of-hfe-polymorphisms-on-biochemical-parameters-of-iron-status-in-arab-beta-thalassemia-patients
#1
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
https://www.readbyqxmd.com/read/28950260/beyond-hla-class-i-antigens-hfe-mutations-in-recurrent-aphthous-oral-ulcers-and-beh%C3%A3-et-s-disease-in-the-south-of-tunisia
#2
El Aoud Sahar, Arwa Kamoun, Nadia Mahfoudh, Aida Charfi, Mouna Snoussi, Hend Hachicha, Ameni Jerbi, Chifa Dammak, Faten Frikha, Faiza Hakim, Lilia Gaddour, Zouhair Bahloul, Hafedh Makni
<br>To establish HLA class I and HFE mutation associations with recurrent aphthous oral ulcers (RAOU) and Behçet disease (BD) in a cohort of Southern Tunisian patients.<br> Materials (Subjects) and Methods<br>A total of 232 patients with RAOU and 123 healthy controls (HC) were enrolled in our study. Patients were divided into 2 groups based on the presence (BD+: 62) or not (BD-: 170). In the BD+ group, 28 patients had a severe form. In the (BD-) group, RAOU was isolated in 81 patients, associated with mucocutaneous manifestations in 58 patients and with joint symptoms in 25 patients...
September 26, 2017: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/28809726/clinical-and-laboratory-associations-with-persistent-hyperferritinemia-in-373-black-hemochromatosis-and-iron-overload-screening-study-participants
#3
James C Barton, J Clayborn Barton, Paul C Adams
BACKGROUND: 373 black participants had elevated screening and post-screening serum ferritin (SF) (> 300 μg/L men; > 200 μg/L women). MATERIAL AND METHODS: We retrospectively studied SF and post-screening age; sex; body mass index; transferrin saturation (TS); ALT; AST; GGT; elevated C-reactive protein; ß-thalassemia; neutrophils; lymphocytes; monocytes; platelets; metacarpophalangeal joint hypertrophy; hepatomegaly; splenomegaly; diabetes; HFE H63D positivity; iron/alcohol intakes; and blood/erythrocyte transfusion units...
September 2017: Annals of Hepatology
https://www.readbyqxmd.com/read/28771940/reduced-cerebral-white-matter-integrity-assessed-by-dti-in-cognitively-normal-h63d-hfe-polymorphism-carriers
#4
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...
August 3, 2017: Journal of Neuroimaging: Official Journal of the American Society of Neuroimaging
https://www.readbyqxmd.com/read/28727322/hfe-gene-polymorphism-defined-by-sequence-based-typing-of-the-brazilian-population-and-a-standardized-nomenclature-for-hfe-allele-sequences
#5
W N Campos, J D Massaro, A L C Martinelli, J A Halliwell, S G E Marsh, C T Mendes-Junior, E A Donadi
The HFE molecule controls iron uptake from gut, and defects in the molecule have been associated with iron overload, particularly in hereditary hemochromatosis. The HFE gene including both coding and boundary intronic regions were sequenced in 304 Brazilian individuals, encompassing healthy individuals and patients exhibiting hereditary or acquired iron overload. Six sites of variation were detected: (1) H63D C>G in exon 2, (2) IVS2 (+4) T>C in intron 2, (3) a C>G transversion in intron 3, (4) C282Y G>A in exon 4, (5) IVS4 (-44) T>C in intron 4, and (6) a new guanine deletion (G>del) in intron 5, which were used for haplotype inference...
July 20, 2017: HLA
https://www.readbyqxmd.com/read/28617828/erad-defects-and-the-hfe-h63d-variant-are-associated-with-increased-risk-of-liver-damages-in-alpha-1-antitrypsin-deficiency
#6
Philippe Joly, Hélène Vignaud, Julie Di Martino, Mathias Ruiz, Roman Garin, Lioara Restier, Abdelouahed Belmalih, Christelle Marchal, Christophe Cullin, Benoit Arveiler, Patricia Fergelot, Aaron D Gitler, Alain Lachaux, Julien Couthouis, Marion Bouchecareilh
BACKGROUND: The most common and severe disease causing allele of Alpha 1-Antitrypsin Deficiency (1ATD) is Z-1AT. This protein aggregates in the endoplasmic reticulum, which is the main cause of liver disease in childhood. Based on recent evidences and on the frequency of liver disease occurrence in Z-1AT patients, it seems that liver disease progression is linked to still unknown genetic factors. METHODS: We used an innovative approach combining yeast genetic screens with next generation exome sequencing to identify and functionally characterize the genes involved in 1ATD associated liver disease...
2017: PloS One
https://www.readbyqxmd.com/read/28406842/hfe-gene-mutations-and-iron-status-in-100-healthy-polish-children
#7
Barbara Kaczorowska-Hac, Marcin Luszczyk, Jedrzej Antosiewicz, Wieslaw Ziolkowski, Elzbieta Adamkiewicz-Drozynska, Malgorzata Mysliwiec, Ewa Milosz, Jan J Kaczor
Iron participates in oxygen transport, energetic, metabolic, and immunologic processes. There are 2 main causes of iron overload: hereditary hemochromatosis which is a primary cause, is a metabolic disorder caused by mutations of genes that control iron metabolism and secondary hemochromatosis caused by multitransfusions, chronic hemolysis, and intake of iron rich food. The most common type of hereditary hemochromatosis is caused by HFE gene mutation. In this study, we analyzed iron metabolism in 100 healthy Polish children in relation to their HFE gene status...
July 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28358914/analysis-of-single-nucleotide-variants-of-hfe-gene-and-association-to-survival-in-the-cancer-genome-atlas-gbm-data
#8
Sang Y Lee, Junjia Zhu, Anna C Salzberg, Bo Zhang, Dajiang J Liu, Joshua E Muscat, Sara T Langan, James R Connor
Human hemochromatosis protein (HFE) is involved in iron metabolism. Two major HFE polymorphisms, H63D and C282Y, have been associated with an increased risk of cancers. Previously, we reported decreased gender effects in overall survival based on H63D or C282Y HFE polymorphisms patients with glioblastoma multiforme (GBM). However, the effect of other single nucleotide variation (SNV) in the HFE gene on the cancer development and progression has not been systematically studied. To expand our finding in a larger sample, and to identify other HFE SNV, we analyzed the frequency of somatic SNV in HFE gene and its relationship to survival in GBM patients using The Cancer Genome Atlas (TCGA) GBM (Caucasian only) database...
2017: PloS One
https://www.readbyqxmd.com/read/28211293/hfe-gene-mutation-and-iron-overload-in-egyptian-pediatric-acute-lymphoblastic-leukemia-survivors-a-single-center-study
#9
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)
https://www.readbyqxmd.com/read/28151915/minor-variant-of-rs-16827043-in-the-iron-regulator-hemojuvelin-gene-hjv-contributes-to-hypertension-the-tamrisk-study
#10
Seppo T Nikkari, Anni-Laura Visto, Kirsi M Määttä, Tarja A Kunnas
It is known that iron overload may lead to an increased risk for many diseases. According to GWAS studies, iron regulatory protein HFE gene variant H63D (rs1799945) was associated with hypertension, an observation which we were able to confirm also in our TAMRISK cohort. Thus, it is possible that abnormalities in iron homeostasis may predispose to hypertension. This prompted us to study whether there is an association between hypertension and another iron overload-associated gene, hemojuvelin (HJV), which has 2 common polymorphic sites (rs 16827043, rs7536827)...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28034447/c282y-h63d-hemochromatosis-mutations-and-microevolution-speculations-concerning-the-basque-population
#11
F Bauduer
The Basques live at the Western extremity of the Pyrenees. According to linguistic and genetic data they could be considered as one of the most ancient European populations. Numerous studies have evidenced particular patterns in the frequency of several genetic polymorphisms in this relatively unmixed human group. We discuss herein the puzzling distribution of the two major hemochromatosis HFE mutations associated with hereditary hemochromatosis. Thus, one can observe a low frequency of C282Y and, in contrast, one of the highest European frequencies of H63D...
January 2017: Homo: Internationale Zeitschrift Für die Vergleichende Forschung Am Menschen
https://www.readbyqxmd.com/read/28019068/using-iron-studies-to-predict-hfe-mutations-in-new-zealand-implications-for-laboratory-testing
#12
Rebecca O'Toole, Kenneth Romeril, Collette Bromhead
BACKGROUND: The diagnosis of Hereditary Haemochromatosis (HH) is not straightforward since symptoms are often absent or non-specific. Biochemical markers of iron-overloading, may be affected by other conditions. This study measured the correlation between iron studies and HFE genotype to inform evidence-based recommendations for laboratory testing in NZ. METHODS: Results from 2388 patients genotyped for C282Y, H63D and S65C in Wellington NZ from 2007- 2013 were compared to their biochemical phenotype as quantified by SF, transferrin saturation (TS), serum iron (SI) and serum transferrin (ST)...
December 26, 2016: Internal Medicine Journal
https://www.readbyqxmd.com/read/27915113/white-blood-cells-and-subtypes-in-hfe-p-c282y-and-wild-type-homozygotes-in-the-hemochromatosis-and-iron-overload-screening-study
#13
James C Barton, J Clayborn Barton, Ronald T Acton
The major histocompatibility complex is linked to white blood cell (WBC) and lymphocyte counts in subjects unselected for HFE genotypes. We compared age, sex, body mass index, total WBC and subtypes (neutrophils, lymphocytes, monocytes, eosinophils, basophils) (Beckman Coulter® Gen-S), transferrin saturation, and serum ferritin of HFE p.C282Y and wild-type (p.C282Y, p.H63D negative) homozygotes without acquired conditions that influence WBC counts. We performed regressions on WBC and subtypes. There were 161 p...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27894410/association-of-hfe-gene-mutations-with-nonalcoholic-fatty-liver-disease-in-the-iranian-population
#14
L Saremi, S Lotfipanah, M Mohammadi, H Hosseinzadeh, A Sayad, Z Saltanatpour
To determine whether the HFE gene variants H63D and C282Y are associated with NAFLD in persons with type 2 diabetes, we conducted a case-control study including 145 case of NAFLD patients with a history of type 2 diabetes and 145 matching control. The genomic DNA was extracted from the peripheral venous blood and the genotyping of HFE gene mutations was analyzed using the PCR-RFLP technique. Statistical analysis was performed using SPSS 12.0 software by χ2 test, t test and ANOVA (P<0.05). Data showed no increased frequency of HFE mutations in persons with type 2 diabetes and no association between H63D mutation and NAFLD in the study population...
October 31, 2016: Cellular and Molecular Biology
https://www.readbyqxmd.com/read/27819792/-molecular-identification-of-hemoglobin-d-punjab-in-cases-detected-in-two-families
#15
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
https://www.readbyqxmd.com/read/27816425/association-of-hfe-gene-c282y-and-h63d-mutations-with-liver-cirrhosis-in-the-lithuanian-population
#16
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
https://www.readbyqxmd.com/read/27784128/hfe-p-c282y-homozygosity-predisposes-to-rapid-serum-ferritin-rise-after-menopause-a-genotype-stratified-cohort-study-of-hemochromatosis-in-australian-women
#17
Charles D Warne, Sophie G Zaloumis, Nadine A Bertalli, Martin B Delatycki, Amanda J Nicoll, Christine E McLaren, John L Hopper, Graham G Giles, Greg J Anderson, John K Olynyk, Lawrie W Powell, Katrina J Allen, Lyle C Gurrin
BACKGROUND AND AIM: Women who are homozygous for the p.C282Y mutation in the HFE gene are at much lower risk of iron overload-related disease than p.C282Y homozygous men, presumably because of the iron-depleting effects of menstruation and pregnancy. We used data from a population cohort study to model the impact of menstruation cessation at menopause on serum ferritin (SF) levels in female p.C282Y homozygotes, with p.C282Y/p.H63D simple or compound heterozygotes and those with neither p...
April 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/27752890/hfe-genetic-variability-and-risk-of-alcoholic-liver-disease-a-meta-analysis
#18
Yan-Yan Xu, Yu-Han Tang, Xiao-Ping Guo, Jing Wang, Ping Yao
Studies examining the association of hemochromatosis (HFE) gene polymorphisms and susceptibility to alcoholic liver disease (ALD) yielded inconsistent results. Thus, we performed a metaanalysis to investigate whether the variations in HFE gene increase the risk of ALD. The studies published up to Feb. 2014 were identified by searching PubMed/MEDLINE, ISI Web of Science, EMBASE and China National Knowledge Infrastructure databases, which was complemented by screening the references of the retrieved studies. For all genotypes and alleles, the odds ratios (ORs) with 95% confidence intervals (CIs) according to the heterogeneity were pooled using fixed-effect model...
October 2016: Journal of Huazhong University of Science and Technology. Medical Sciences
https://www.readbyqxmd.com/read/27661980/the-d519g-polymorphism-of-glyceronephosphate-o-acyltransferase-is-a-risk-factor-for-familial-porphyria-cutanea-tarda
#19
Colin P Farrell, Jessica R Overbey, Hetanshi Naik, Danielle Nance, Gordon D McLaren, Christine E McLaren, Luming Zhou, Robert J Desnick, Charles J Parker, John D Phillips
Both familial and sporadic porphyria cutanea tarda (PCT) are iron dependent diseases. Symptoms of PCT resolve when iron stores are depleted by phlebotomy, and a sequence variant of HFE (C282Y, c.843G>A, rs1800562) that enhances iron aborption by reducing hepcidin expression is a risk factor for PCT. Recently, a polymorphic variant (D519G, c.1556A>G, rs11558492) of glyceronephosphate O-acyltransferase (GNPAT) was shown to be enriched in male patients with type I hereditary hemochromatosis (HFE C282Y homozygotes) who presented with a high iron phenotype, suggesting that GNPAT D519G, like HFE C282Y, is a modifier of iron homeostasis that favors iron absorption...
2016: PloS One
https://www.readbyqxmd.com/read/27621921/haplotype-analysis-of-hemochromatosis-gene-polymorphisms-in-chronic-hepatitis-c-virus-infection-a-case-control-study
#20
Sina Gerayli, Alireza Pasdar, Mohammad Taghi Shakeri, Samaneh Sepahi, Seyed Mousalreza Hoseini, Mitra Ahadi, Sina Rostami, Zahra Meshkat
BACKGROUND: Chronic hepatitis C virus (HCV) infection is frequently associated with elevated serum iron markers. Polymorphisms in the hemochromatosis (HFE) genes are responsible for iron accumulation in most cases of hemochromatosis, and may play a role in HCV infection. OBJECTIVES: We aimed to assess the prevalence of HFE gene polymorphisms in a group of Iranian HCV-infected patients, and to explore the association of these polymorphisms with HCV infection. PATIENTS AND METHODS: HFE gene polymorphisms were examined in a total of 69 HCV patients and 69 healthy controls using polymerase chain reaction and restriction fragment length polymorphism techniques...
June 2016: Iranian Red Crescent Medical Journal
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