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HFE H63D

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https://www.readbyqxmd.com/read/28211293/hfe-gene-mutation-and-iron-overload-in-egyptian-pediatric-acute-lymphoblastic-leukemia-survivors-a-single-center-study
#1
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...
February 17, 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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 due to 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...
October 26, 2016: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/27752890/hfe-genetic-variability-and-risk-of-alcoholic-liver-disease-a-meta-analysis
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27561698/effect-of-the-hemochromatosis-mutations-on-iron-overload-among-the-indian-%C3%AE-thalassemia-carriers
#13
Anita H Nadkarni, Aradhana A Singh, Stacy Colaco, Priya Hariharan, Roshan B Colah, Kanjaksha Ghosh
BACKGROUND: Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron absorption.HFE gene mutations C282Y and H63D are responsible for the majority of hereditary hemochromatosis cases. METHODS: We tried to look at the effect of HFE mutations on the iron status. A total of 100 β thalassemia traits (BTT) with 100 normal individuals were screened for the C282Y and H63D mutations using PCR-RFLP. The serum ferritin levels were determined using ELISA kit...
August 26, 2016: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/27553379/the-impact-of-h63d-hfe-gene-carriage-on-hemoglobin-and-iron-status-in-children
#14
Kaczorowska-Hac Barbara, Luszczyk Marcin, Antosiewicz Jedrzej, Ziolkowski Wieslaw, Adamkiewicz-Drozynska Elzbieta, Mysliwiec Malgorzata, Milosz Ewa, Kaczor Jan Jacek
The molecular mechanism that regulates iron homeostasis is based on a network of signals, which reflect on the iron requirements of the body. Hereditary hemochromatosis is a heterogenic metabolic syndrome which is due to unchecked transfer of iron into the bloodstream and its toxic effects on parenchymatous organs. It is caused by the mutation of genes that encode proteins that help hepcidin to monitor serum iron. These proteins include the human hemochromatosis protein -HFE, transferrin-receptor 2, hemojuvelin in rare instances, and ferroportin...
December 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27513231/correlation-between-hfe-gene-polymorphisms-and-increased-risk-of-coronary-artery-disease-among-patients-with-type-2-diabetes-in-iran
#15
Leila Saremi, Marzieh Saremi, Shirin Lotfipanah, Saber İmani, Junjiang Fu, Tianyu Zhang
BACKGROUND/AIM: Diabetes mellitus is a risk factor for cardiovascular diseases (CVDs), which are among the major causes of deaths in type 2 diabetes (T2D). The purpose of the present study was to determine the association of C282Y and H63D mutations in the HFE gene with increased risk of coronary artery disease (CAD) in T2D patients. MATERIALS AND METHODS: Two hundred and ninety individuals were divided into two groups: a case group and a control group. Genomic DNA of peripheral venous blood cells was extracted and the HFE gene mutations were analyzed using the PCR-RFLP technique...
2016: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/27335591/frequency-of-hereditary-hemochromatosis-hfe-gene-mutations-in-egyptian-beta-thalassemia-patients-and-its-relation-to-iron-overload
#16
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
https://www.readbyqxmd.com/read/27317329/haplotype-analysis-of-the-hfe-gene-among-populations-of-northern-eurasia-in-patients-with-metabolic-disorders-or-stomach-cancer-and-in-long-lived-people
#17
S V Mikhailova, V N Babenko, D E Ivanoshchuk, M A Gubina, V N Maksimov, I G Solovjova, M I Voevoda
BACKGROUND: Previously, it was shown that the HFE gene (associated with human hereditary hemochromatosis) has several haplotypes of intronic polymorphisms. Some haplotype frequencies are race specific and hence can be used in phylogenetic analysis. We assumed that analysis of Caucasoid patients-living now in Western Siberia and having diseases associated with dietary habits and metabolic rate-will allow us to understand the processes of possible selection during settling of the northern part of Asia...
2016: BMC Genetics
https://www.readbyqxmd.com/read/27295312/mutation-in-hfe-gene-decreases-manganese-accumulation-and-oxidative-stress-in-the-brain-after-olfactory-manganese-exposure
#18
Qi Ye, Jonghan Kim
Increased accumulation of manganese (Mn) in the brain is significantly associated with neurobehavioral deficits and impaired brain function. Airborne Mn has a high systemic bioavailability and can be directly taken up into the brain, making it highly neurotoxic. While Mn transport is in part mediated by several iron transporters, the expression of these transporters is altered by the iron regulatory gene, HFE. Mutations in the HFE gene are the major cause of the iron overload disorder, hereditary hemochromatosis, one of the prevalent genetic diseases in humans...
June 1, 2016: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/27173269/molecular-epidemiology-of-hfe-gene-polymorphic-variants-c282y-h63d-and-s65c-in-the-population-of-esp%C3%A3-rito-santo-brazil
#19
L N R Alves, E V W Santos, E Stur, A M A Silva Conforti, I D Louro
Hereditary hemochromatosis (HH) is an autosomal recessive disorder that leads to progressive iron accumulation and may cause cirrhosis, hepatocellular carcinoma, diabetes, and heart failure. Most cases of HH have been linked to mutations in genes associated with iron homeostasis. There have been three major variants in the high Fe (HFE) gene associated with the disease: C282Y, H63D and S65C. In this context, we aimed to evaluate the prevalence of the polymorphic variants (C282Y, H63D and S65C) of the HFE gene in the population of the Espírito Santo State (ES), Brazil by analyzing three different groups: general population (N = 120), Pomeranian descendants (N = 59), and patients with HH (N = 20)...
April 27, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27124787/highly-accurate-molecular-genetic-testing-for-hfe-hereditary-hemochromatosis-results-from-10-years-of-blinded-proficiency-surveys-by-the-college-of-american-pathologists
#20
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
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