keyword
MENU ▼
Read by QxMD icon Read
search

hereditary hemochromatosis

keyword
https://www.readbyqxmd.com/read/28541873/an-unusual-presentation-of-seborrheic-keratoses-in-a-man-with-hereditary-hemochromatosis
#1
Tiffany Y Loh, Philip R Cohen
Hereditary hemochromatosis is an autosomal recessive disorder that disturbs iron metabolism and results in iron deposition throughout the body. Iron accumulation in various organs may cause a wide range of systemic symptoms and cutaneous manifestations of the disease are particularly striking. Classically, hereditary hemochromatosis has been termed "bronze diabetes." Although diffuse hyperpigmentation is a well-described feature of this disease, other cutaneous symptoms may also occur, and a variety of anomalies may be observed...
April 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28499927/disruption-of-the-hepcidin-ferroportin-regulatory-system-causes-pulmonary-iron-overload-and-restrictive-lung-disease
#2
Joana Neves, Dominik Leitz, Simone Kraut, Christina Brandenberger, Raman Agrawal, Norbert Weissmann, Christian Mühlfeld, Marcus A Mall, Sandro Altamura, Martina U Muckenthaler
Emerging evidence suggests that pulmonary iron accumulation is implicated in a spectrum of chronic lung diseases. However, the mechanism(s) involved in pulmonary iron deposition and its role in the in vivo pathogenesis of lung diseases remains unknown. Here we show that a point mutation in the murine ferroportin gene, which causes hereditary hemochromatosis type 4 (Slc40a1(C326S)), increases iron levels in alveolar macrophages, epithelial cells lining the conducting airways and lung parenchyma, and in vascular smooth muscle cells...
April 29, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28482413/-hereditary-spherocytosis-complicated-by-hereditary-hemochromatosis-a-case-report
#3
H B Ning, E E Guo, J P Liu, E H Xiao, J Shang
No abstract text is available yet for this article.
March 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/28479501/porphyria-cutanea-tarda-as-the-initial-manifestation-of-subclinical-hereditary-hemochromatosis
#4
Oleksandr Trofymenko, Paul Sagerman, Drew Jb Kurtzman
No abstract text is available yet for this article.
May 4, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28474781/the-hemochromatosis-protein-hfe-20-years-later-an-emerging-role-in-antigen-presentation-and-in-the-immune-system
#5
REVIEW
Alexandre Reuben, Jacqueline W Chung, Réjean Lapointe, Manuela M Santos
INTRODUCTION: Since its discovery, the hemochromatosis protein HFE has been primarily defined by its role in iron metabolism and homeostasis, and its involvement in the genetic disease termed hereditary hemochromatosis (HH). While HH patients are typically afflicted by dysregulated iron levels, many are also affected by several immune defects and increased incidence of autoimmune diseases that have thereby implicated HFE in the immune response. Growing evidence has supported an immunological role for HFE with recent studies describing HFE specifically as it relates to MHC I antigen presentation...
April 19, 2017: Immunity, Inflammation and Disease
https://www.readbyqxmd.com/read/28443246/genetic-and-dietary-iron-overload-differentially-affect-the-course-of-salmonella-typhimurium-infection
#6
Manfred Nairz, Andrea Schroll, David Haschka, Stefanie Dichtl, Piotr Tymoszuk, Egon Demetz, Patrizia Moser, Hubertus Haas, Ferric C Fang, Igor Theurl, Günter Weiss
Genetic and dietary forms of iron overload have distinctive clinical and pathophysiological features. HFE-associated hereditary hemochromatosis is characterized by overwhelming intestinal iron absorption, parenchymal iron deposition, and macrophage iron depletion. In contrast, excessive dietary iron intake results in iron deposition in macrophages. However, the functional consequences of genetic and dietary iron overload for the control of microbes are incompletely understood. Using Hfe(+/+) and Hfe(-/-) mice in combination with oral iron overload in a model of Salmonella enterica serovar Typhimurium infection, we found animals of either genotype to induce hepcidin antimicrobial peptide expression and hypoferremia following systemic infection in an Hfe-independent manner...
2017: Frontiers in Cellular and Infection Microbiology
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...
April 12, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28379030/the-role-of-iron-in-the-pathogenesis-of-atherosclerosis
#8
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
#9
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
#10
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 the 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...
June 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
#11
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
#12
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 five 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...
June 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28294512/hfe-mutations-and-iron-in-hemodialysis-patients
#13
REVIEW
Luca Valenti, Serena Pelusi
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. We systematically reviewed the literature on the role of genetic risk factors on iron metabolism in hemodialysis. In this setting, mutations in the HFE gene of hereditary hemochromatosis may confer an adaptive benefit by decreasing hepcidin release, thus improving iron availability to erythropoiesis, anemia control, and the response to erythropoiesis stimulating agents and iron itself, and reducing the side effects of these therapies...
June 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28291154/assessment-of-drusen-and-other-retinal-degenerative-changes-in-patients-with-hereditary-hemochromatosis
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
109331
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"