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hereditary hemochromatosis

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https://www.readbyqxmd.com/read/28406842/hfe-gene-mutations-and-iron-status-in-100-healthy-polish-children
#1
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...
April 12, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28379030/the-role-of-iron-in-the-pathogenesis-of-atherosclerosis
#2
P Kraml
Ferritin and increased iron stores first appeared on the list of cardiovascular risk factors more than 30 years ago and their causal role in the pathogenesis of atherosclerosis has been heavily discussed since the early 1990s. It seems that besides traditional factors such as hyperlipoproteinemia, hypertension, diabetes mellitus, obesity, physical inactivity, smoking and family history, high iron stores represent an additional parameter that could modify individual cardiovascular risk. The role of iron in the pathogenesis of atherosclerosis was originally primarily associated with its ability to catalyze the formation of highly reactive free oxygen radicals and the oxidation of atherogenic lipoproteins...
April 5, 2017: Physiological Research
https://www.readbyqxmd.com/read/28371912/hereditary-hemochromatosis-arthropathy-and-doppler-ultrasound-findings-of-synovitis
#3
Anu R Oke, Ernest Wong, Fiona McCrae, Steven Young-Min
No abstract text is available yet for this article.
March 22, 2017: Rheumatology
https://www.readbyqxmd.com/read/28363629/juvenile-hemochromatosis-and-hepatocellular-carcinoma-in-a-patient-with-a-novel-mutation-in-the-hjv-gene
#4
Khushnooda Ramzan, Faiqa Imtiaz, Hamad I Al-Ashgar, Moeenaldeen AlSayed, Raashda A Sulaiman
Juvenile hemochromatosis is a rare but the most severe form of hereditary hemochromatosis which develops due to mutations in the HJV or HAMP genes. It presents in early adulthood mainly as cardiomyopathy, hypogonadism and liver fibrosis. Unlike hereditary hemochromatosis due to HFE mutation, hepatocellular carcinoma is not known to be associated with juvenile hemochromatosis. Here, we report a patient of Arab ancestry who presented with severe cardiomyopathy. Sequence analysis of the HJV gene followed by homozygosity mapping, identified a previously undescribed homozygous missense variation in exon 3 (c...
March 28, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28341391/mice-lacking-liver-specific-%C3%AE-catenin-develop-steatohepatitis-and-fibrosis-after-iron-overload
#5
Morgan E Preziosi, Sucha Singh, Erika V Valore, Grace Jung, Branimir Popovic, Minakshi Poddar, Shanmugam Nagarajan, Tomas Ganz, Satdarshan P Monga
BACKGROUND & AIMS: Iron overload disorders such as hereditary hemochromatosis and iron loading anemias are a common cause of morbidity from liver diseases and increase risk of hepatic fibrosis and hepatocellular carcinoma (HCC). Treatment options for iron-induced damage are limited, partly because there is lack of animal models of human disease. Therefore, we investigated the effect of iron overload in liver-specific β-catenin knockout mice (KO), which are susceptible to injury, fibrosis and tumorigenesis following chemical carcinogen exposure...
March 22, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28335084/identification-of-new-bmp6-pro-peptide-mutations-in-patients-with-iron-overload
#6
Chiara Piubelli, Annalisa Castagna, Giacomo Marchi, Monica Rizzi, Fabiana Busti, Sadaf Badar, Monia Marchetti, Marco De Gobbi, Antonella Roetto, Luciano Xumerle, Eda Suku, Alejandro Giorgetti, Massimo Delledonne, Oliviero Olivieri, Domenico Girelli
Hereditary Hemochromatosis (HH) is a genetically heterogeneous disorder caused by mutations in at least 5 different genes (HFE, HJV, TFR2, SLC40A1, HAMP) involved in the production or activity of the liver hormone hepcidin, a key regulator of systemic iron homeostasis. Nevertheless, patients with an HH-like phenotype that remains completely/partially unexplained despite extensive sequencing of known genes are not infrequently seen at referral centers, suggesting a role of still unknown genetic factors. A compelling candidate is Bone Morphogenetic Protein 6 (BMP6), which acts as a major activator of the BMP-SMAD signaling pathway, ultimately leading to the upregulation of hepcidin gene transcription...
March 23, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28294512/hfe-mutations-and-iron-in-hemodialysis-patients
#7
Luca Valenti, Serena Pelusi
INTRODUCTION: in chronic hemodialysis patients, a disruption in iron metabolism ranging from absolute to functional deficiency, with compartmentalization of this metal into macrophages, is often observed. Chronic inflammation indeed often causes an upregulation of the iron hormone hepcidin, thereby reducing iron absorption and availability to the erythron. METHODS: we systematically reviewed the literature on the role of genetic risk factors on iron metabolism in hemodialysis...
March 15, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28291154/assessment-of-drusen-and-other-retinal-degenerative-changes-in-patients-with-hereditary-hemochromatosis
#8
Moreno Menghini, Christian Prünte, Pierre A Krayenbuehl, Albina Nowak
PURPOSE: Iron can exert oxidative damage, and increased accumulation is believed to play a role in age-related macular degeneration. Hereditary hemochromatosis leads to an increase in total body iron. Patients with HH were assessed for drusen and other retinal changes. METHODS: Descriptive uncontrolled study of spectral-domain optical coherence tomography, short-wavelength autofluorescence, and color fundus images from patients with HH were used. Diagnosis of HH was established by measuring ferritin and transferrin saturation, and confirmed by genetic testing...
March 13, 2017: Retina
https://www.readbyqxmd.com/read/28280078/pathophysiological-consequences-and-benefits-of-hfe-mutations-20-years-of-research
#9
Ina Hollerer, André Bachmann, Martina U Muckenthaler
Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The HFE mutation p.Cys282Tyr is pathologically most relevant and occurs in the Caucasian population with a carrier frequency of up to 1 in 8 in specific European regions. Despite this high prevalence, the mutation causes a clinically relevant phenotype only in a minority of cases. In this review, we summarize historical facts and recent research findings about hereditary hemochromatosis and outline the pathological consequences of the associated gene defects...
March 9, 2017: Haematologica
https://www.readbyqxmd.com/read/28270766/clinical-impact-and-cellular-mechanisms-of-iron-overload-associated-bone-loss
#10
REVIEW
Viktória Jeney
Diseases/conditions with diverse etiology, such as hemoglobinopathies, hereditary hemochromatosis and menopause, could lead to chronic iron accumulation. This condition is frequently associated with a bone phenotype; characterized by low bone mass, osteoporosis/osteopenia, altered microarchitecture and biomechanics, and increased incidence of fractures. Osteoporotic bone phenotype constitutes a major complication in patients with iron overload. The purpose of this review is to summarize what we have learnt about iron overload-associated bone loss from clinical studies and animal models...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28267532/r2-relaxometry-of-the-pancreas-in-patients-with-human-hemochromatosis-protein-associated-hereditary-hemochromatosis
#11
B Henninger, S Rauch, H Zoller, M Plaikner, W Jaschke, C Kremser
PURPOSE: To evaluate pancreatic iron in patients with human hemochromatosis protein associated hereditary hemochromatosis (HHC) using R2* relaxometry. MATERIALS AND METHODS: 81 patients (58 male, 23 female; median age 49.5, range 10-81 years) with HHC were retrospectively studied. All underwent 1.5T magnetic resonance imaging (MRI) of the abdomen. A fat-saturated multi-gradient echo sequence with 12 echoes (TR=200ms; TE-initial 0.99ms; Delta-TE 1.41ms; 12 echoes; flip-angle: 20°) was used for the R2* quantification of the liver and the pancreas...
April 2017: European Journal of Radiology
https://www.readbyqxmd.com/read/28228131/whole-genome-sequencing-of-one-complex-pedigree-illustrates-challenges-with-genomic-medicine
#12
Han Fang, Yiyang Wu, Hui Yang, Margaret Yoon, Laura T Jiménez-Barrón, David Mittelman, Reid Robison, Kai Wang, Gholson J Lyon
BACKGROUND: Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few reports combining whole genome sequencing (WGS) and HPO, especially in the context of structural variants. METHODS: We illustrate an integrative analysis of WGS and HPO using an extended pedigree, which involves Prader-Willi Syndrome (PWS), hereditary hemochromatosis (HH), and dysautonomia-like symptoms...
February 23, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28211293/hfe-gene-mutation-and-iron-overload-in-egyptian-pediatric-acute-lymphoblastic-leukemia-survivors-a-single-center-study
#13
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/28195347/characterization-of-ferroptosis-in-murine-models-of-hemochromatosis
#14
Hao Wang, Peng An, Enjun Xie, Qian Wu, Xuexian Fang, Hong Gao, Zhuzhen Zhang, Yuzhu Li, Xudong Wang, Jiaying Zhang, Guoli Li, Lei Yang, Wei Liu, Junxia Min, Fudi Wang
Ferroptosis is a recently identified iron-dependent form of non-apoptotic cell death implicated in brain, kidney, and heart pathology. However, the biological roles of iron and iron metabolism in ferroptosis remain poorly understood. Here, we studied the functional role of iron and iron metabolism in the pathogenesis of ferroptosis. We found that ferric citrate potently induces ferroptosis in murine primary hepatocytes and bone marrow-derived macrophages (BMDMs). Next, we screened for ferroptosis in mice fed a high-iron diet and in mouse models of hereditary hemochromatosis with iron overload...
February 13, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28096133/regulation-of-the-iron-homeostatic-hormone-hepcidin
#15
REVIEW
Veena Sangkhae, Elizabeta Nemeth
Iron is required for many biological processes but is also toxic in excess; thus, body iron balance is maintained through sophisticated regulatory mechanisms. The lack of a regulated iron excretory mechanism means that body iron balance is controlled at the level of absorption from the diet. Iron absorption is regulated by the hepatic peptide hormone hepcidin. Hepcidin also controls iron release from cells that recycle or store iron, thus regulating plasma iron concentrations. Hepcidin exerts its effects through its receptor, the cellular iron exporter ferroportin...
January 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28067690/iron-overload-in-the-liver-of-2-children-nonalcoholic-steatohepatitis-and-juvenile-hemochromatosis
#16
Aysel Ünlüsoy Aksu, Angela Caleffi, Antonello Pietrangelo, Sinan Sari, Ödül Eğritaş Gürkan, Zeliha Demirtaş, Güldal Yilmaz, Buket Dalgiç
BACKGROUND: Iron overload disorders are hereditary hemochromatosis and secondary etiologies other than hereditary hemochromatosis. We describe 2 boys presenting with iron overload. Juvenile hemochromatosis and nonalcoholic steatohepatitis (NASH) related iron overload are the genetic and secondary causes, respectively. OBSERVATIONS: Both patients benefited from phlebotomy even if they had different etiologies. CONCLUSIONS: In childhood, the diagnosis of iron overload syndromes is crucial because they do not confront us with obvious symptoms and findings...
January 6, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28034447/c282y-h63d-hemochromatosis-mutations-and-microevolution-speculations-concerning-the-basque-population
#17
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/27995906/acg-clinical-guideline-evaluation-of-abnormal-liver-chemistries
#18
Paul Y Kwo, Stanley M Cohen, Joseph K Lim
Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase and bilirubin. These tests should be termed liver chemistries or liver tests. Hepatocellular injury is defined as disproportionate elevation of AST and ALT levels compared with alkaline phosphatase levels. Cholestatic injury is defined as disproportionate elevation of alkaline phosphatase level as compared with AST and ALT levels...
January 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/27936457/genetic-disruption-of-nrf2-promotes-the-development-of-necroinflammation-and-liver-fibrosis-in-a-mouse-model-of-hfe-hereditary-hemochromatosis
#19
Tiago L Duarte, Carolina Caldas, Ana G Santos, Sandro Silva-Gomes, Andreia Santos-Gonçalves, Maria João Martins, Graça Porto, José Manuel Lopes
BACKGROUND AND AIMS: In hereditary hemochromatosis, iron deposition in the liver parenchyma may lead to fibrosis, cirrhosis and hepatocellular carcinoma. Most cases are ascribed to a common mutation in the HFE gene, but the extent of clinical expression is greatly influenced by the combined action of yet unidentified genetic and/or environmental modifying factors. In mice, transcription factor NRF2 is a critical determinant of hepatocyte viability during exposure to acute dietary iron overload...
April 2017: Redox Biology
https://www.readbyqxmd.com/read/27933629/accepting-hereditary-hemochromatosis-blood-donors-ask-not-why-ask-why-not
#20
EDITORIAL
Kamille A West, Anne F Eder
No abstract text is available yet for this article.
December 2016: Transfusion
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