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JOURNAL ARTICLE
Liyan Wu, Wei Zhang, Yanmeng Li, Donghu Zhou, Bei Zhang, Anjian Xu, Zhen Wu, Lina Wu, Shuxiang Li, Xiaoming Wang, Xinyan Zhao, Qianyi Wang, Min Li, Yu Wang, Hong You, Jian Huang, Xiaojuan Ou, Jidong Jia
BACKGROUND: Hereditary hemochromatosis (HH) is widely recognized and clinical manifestations of hemochromatosis-related (HFE-related) HH is well studied in European populations. Less is known about the clinical and laboratory characteristics of non-HFE related HH in Asian population. We aimed to explore the relationship between genotype and clinical phenotype in Chinese patients with non-HFE related hereditary hemochromatosis. METHODS: Peripheral blood samples and clinical data of patients with primary iron overload were collected from the China Registry of Genetic/Metabolic Liver Diseases...
September 28, 2021: Orphanet Journal of Rare Diseases
#22
JOURNAL ARTICLE
Karina Pique, William Taber, Anthony Thompson, Charles Gerry Maitland
Isolated optic neuropathy due to folate deficiency is rarely reported. Poor dietary practices, malabsorption, and tobacco/alcohol abuse are usually responsible. We examined a patient with blinding optic neuropathies and isolated folic acid deficiency. Visual acuity recovered after folate replacement. At the same time, serological investigation revealed high ferritin and iron saturation levels with negative genetic markers for haemochromatosis consistent with the diagnosis of iron overload syndrome. There are no reports of blindness associated with iron overload syndrome...
July 29, 2021: BMJ Case Reports
#23
JOURNAL ARTICLE
Andrew D Shubin, Lucia De Gregorio, Christine Hwang, Malcolm MacConmara
Hereditary haemochromatosis results in multiorgan dysfunction secondary to iron overload. Haemojuvelin (HJV)-associated haemochromatosis, is a rapidly progressing form of haemochromatosis caused by mutation in the HJV that frequently results in heart and liver failure. Herein, we describe the successful treatment of a 39-year-old woman with decompensated heart failure and liver cirrhosis requiring extracorporeal membrane oxygenation who was successfully treated with combined heart-liver transplantation. Following her life-saving multiorgan transplantation, she was also noted to have rapid correction of her serum ferritin to normal levels...
May 31, 2021: BMJ Case Reports
#24
JOURNAL ARTICLE
Izabela Zakrocka, Iwona Baranowicz-Gąszczyk, Wojciech Załuska
BACKGROUND: Iron overload is inevitably related to chronic kidney disease (CKD) treatment. Haemochromatosis leads to multiorgan damage and is associated with increased mortality. Primary haemochromatosis is the most common autosomal recessive disease in white populations. In most cases, the classic form of hereditary haemochromatosis is caused by mutations, mainly C282Y and H63D, in the haemochromatosis gene (HFE). Secondary haemochromatosis can be triggered by iron administration and blood transfusions...
May 29, 2021: BMC Nephrology
#25
JOURNAL ARTICLE
André Viveiros, Benedikt Schaefer, Marlene Panzer, Benjamin Henninger, Michaela Plaikner, Christian Kremser, André Franke, Sören Franzenburg, Marc P Hoeppner, Reinhard Stauder, Andreas Janecke, Herbert Tilg, Heinz Zoller
BACKGROUND AND AIMS: High serum ferritin is frequent among patients with chronic liver disease and commonly associated with hepatic iron overload. Genetic causes of high liver iron include homozygosity for the p.Cys282Tyr variant in homeostatic iron regulator (HFE) and rare variants in non-HFE genes. The aims of the present study were to describe the landscape and frequency of mutations in hemochromatosis genes and determine whether patient selection by noninvasive hepatic iron quantification using MRI improves the diagnostic yield of next-generation sequencing (NGS) in patients with hyperferritinemia...
November 2021: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
#26
REVIEW
William J H Griffiths, Martin Besser, David J Bowden, Deirdre A Kelly
Juvenile haemochromatosis is a severe inherited iron-loading disorder that can present in children and adolescents. Typical manifestations include heart failure, endocrine failure (including diabetes and hypogonadism), cirrhosis, and arthropathy. Compared with HFE haemochromatosis, juvenile haemochromatosis affects female and male individuals similarly, presents at a younger age, and causes multiple organ dysfunction; the principle of iron loading into tissues from the gut is shared by both forms, but the process is far more rapid in juvenile haemochromatosis...
July 2021: Lancet Child & Adolescent Health
#27
JOURNAL ARTICLE
Han Wu, Miao Yu, Cheng Xiao, Qian Zhang, Xinhua Xiao
AIMS: Hereditary haemochromatosis (HH) is a genetic disorder characterised by systemic iron overload and can lead to end-organ failure. However, very few data on this disorder, especially those on endocrine gland involvement in Chinese populations, are currently available. This study aimed to analyse the clinical features of endocrinopathies in patients with HH to generate concern among endocrinologists and improve the management of this disorder. MATERIALS AND METHODS: Chinese patients with HH-related endocrine dysfunction were enrolled at Peking Union Medical College Hospital from January 2010 to December 2018...
March 18, 2021: Diabetes/metabolism Research and Reviews
#28
JOURNAL ARTICLE
Stephan Buch, Aneesh Sharma, Eleanor Ryan, Christian Datz, William J H Griffiths, Michael Way, Thomas W M Buckley, John D Ryan, Stephen Stewart, Callum Wright, Paola Dongiovanni, Anna Fracanzani, Jochen Zwerina, Uta Merle, Karl Heinz Weiss, Elmar Aigner, Elisabeth Krones, Christian Dejaco, Janett Fischer, Thomas Berg, Luca Valenti, Heinz Zoller, Andrew McQuillin, Jochen Hampe, Felix Stickel, Marsha Y Morgan
BACKGROUND: Cirrhosis develops in <10% of individuals homozygous for the C282Y variant in the homeostatic iron regulator (HFE) gene. Carriage of PCSK7:rs236918 is associated with an increased risk of cirrhosis in this population. AIM: To determine if genetic variants significantly associated with the risk of alcohol- and NAFLD-related cirrhosis also modulate the cirrhosis risk in C282Y homozygotes. METHODS: Variants in PCSK7, PNPLA3, TM6SF2, MBOAT7 and HSD17B13 were genotyped in 1319 C282Y homozygotes, from six European countries, of whom 171 (13...
April 2021: Alimentary Pharmacology & Therapeutics
#29
JOURNAL ARTICLE
Binayak Upadhyay, Steven D Green, Nabin Khanal, Aśok C Antony
Iatrogenic iron overload, which is not uncommon in patients undergoing long-term haemodialysis, arises from a combination of multiple red cell transfusions and parenteral iron infusions that are administered to maintain a haemoglobin concentration of approximately 10 g/dL. Although iron overload due to genetic haemochromatosis is conventionally managed by phlebotomy, patients with haemoglobinopathies and chronic transfusion-induced iron overload are treated with iron-chelation therapy. However, the management of iron overload in our patient who presented with hepatic dysfunction and immunosuppressive drug-induced mild anaemia in the post-renal transplant setting posed unique challenges...
February 5, 2021: BMJ Case Reports
#30
JOURNAL ARTICLE
Aleša Kristan, Jernej Gašperšič, Tadeja Režen, Tanja Kunej, Rok Količ, Andrej Vuga, Martina Fink, Špela Žula, Saša Anžej Doma, Irena Preložnik Zupan, Tadej Pajič, Helena Podgornik, Nataša Debeljak
BACKGROUND: Erythrocytosis is a condition with an excessive number of erythrocytes, accompanied by an elevated haemoglobin and/or haematocrit value. Congenital erythrocytosis has a diverse genetic background with several genes involved in erythropoiesis. In clinical practice, nine genes are usually examined, but in approximately 70% of patients, no causative mutation can be identified. In this study, we screened 39 genes, aiming to identify potential disease-driving variants in the family with erythrocytosis of unknown cause...
April 2021: Journal of Clinical Laboratory Analysis
#31
REVIEW
Yang Xu, Víctor M Alfaro-Magallanes, Jodie L Babitt
The discovery of hepcidin has provided a solid foundation for understanding the mechanisms of systemic iron homeostasis and the aetiologies of iron disorders. Hepcidin assures the balance of circulating and stored iron levels for multiple physiological processes including oxygen transport and erythropoiesis, while limiting the toxicity of excess iron. The liver is the major site where regulatory signals from iron, erythropoietic drive and inflammation are integrated to control hepcidin production. Pathologically, hepcidin dysregulation by genetic inactivation, ineffective erythropoiesis, or inflammation leads to diseases of iron deficiency or overload such as iron-refractory iron-deficiency anaemia, anaemia of inflammation, iron-loading anaemias and hereditary haemochromatosis...
June 2021: British Journal of Haematology
#32
Ardalan Naseri, Degui Zhi, Shaojie Zhang
Runs of homozygosity (ROH) segments, contiguous homozygous regions in a genome were traditionally linked to families and inbred populations. However, a growing literature suggests that ROHs are ubiquitous in outbred populations. Still, most existing genetic studies of ROH in populations are limited to aggregated ROH content across the genome, which does not offer the resolution for mapping causal loci. This limitation is mainly due to a lack of methods for efficient identification of shared ROH diplotypes. Here, we present a new method, ROH-DICE, to find large ROH diplotype clusters, sufficiently long ROHs shared by a sufficient number of individuals, in large cohorts...
October 27, 2020: medRxiv
#33
JOURNAL ARTICLE
Guilherme Rossi Assis-Mendonça, Marlone Cunha-Silva, Mariana Franson Fernandes, Luiza Dias Torres, Monica Pinheiro de Almeida Verissimo, Marcelo Trevisan Neves Okano, Daniel Ferraz Mazo, Cristina Alba Lalli, Tiago Sevá-Pereira, Rafael Fantelli Stelini, Larissa Bastos Eloy da Costa
BACKGROUND: Genetic anaemias lead us to reflect on the classic 'trolley dilemma', when there are two choices but neither one is satisfactory. Either we do not treat anaemia and the patient suffers from chronic tiredness and fatigue, or we do treat it through blood transfusions, leading to iron overload, which is a quite harmful consequence. CASE PRESENTATION: We present the case of a 34-year-old woman with Diamond-Blackfan anaemia (DBA). Bone marrow stem cell transplantation had not been accessible during her childhood, so she had been submitted to monthly blood transfusions throughout her life, leading to a hepatitis C virus infection (which was treated, achieving a sustained virological response when she was 18 years old), and secondary haemochromatosis...
October 12, 2020: BMC Gastroenterology
#34
JOURNAL ARTICLE
Nils Thorm Milman
OBJECTIVE: To provide an overview of nutrients and compounds, which influence human intestinal iron absorption, thereby making a platform for elaboration of dietary recommendations that can reduce iron uptake in patients with genetic haemochromatosis. DESIGN: Review. Setting . A literature search in PubMed and Google Scholar of papers dealing with iron absorption. RESULTS: The most important promoters of iron absorption in foods are ascorbic acid, lactic acid (produced by fermentation), meat factors in animal meat, the presence of heme iron, and alcohol which stimulate iron uptake by inhibition of hepcidin expression...
2020: Journal of Nutrition and Metabolism
#35
JOURNAL ARTICLE
Abhishek Goyal, Bishav Mohan, Kavita Saggar, Gurpreet Singh Wander
Primary haemochromatosis (PH) is a genetic disorder of iron metabolism with multiorgan involvement due to mutations in HFE or more rarely haemojuvelin (HJV) gene. Cardiac involvement results in dilated cardiomyopathy with reduced ejection fraction and progressive heart failure. PH is rarely reported from India and cardiomyopathy due to PH from HJV mutations is thought to be uncommon. We report two families with cardiomyopathy resulting from PH. Diagnosis was suspected on the basis of skin pigmentation, markedly elevated serum ferritin and transferring saturation...
September 16, 2020: BMJ Case Reports
#36
JOURNAL ARTICLE
Sebastian Kölmel, Albina Nowak, Pierre-Alexandre Krayenbuehl
AIMS OF THE STUDY: Hereditary haemochromatosis is a genetic disease characterised by progressive accumulation of iron in organs leading to many unspecific complaints, but even today diagnosis may be delayed. We aimed to identify symptoms associated with iron overload and parameters typical in patients with hereditary haemochromatosis which might help to facilitate detection and diagnosis in daily clinical routine. METHODS: We analysed the prospective Swiss Haemochromatosis Cohort (SHC), including 163 patients for whom serum ferritin levels at diagnosis were available...
July 13, 2020: Swiss Medical Weekly
#37
JOURNAL ARTICLE
Egon Demetz, Piotr Tymoszuk, Richard Hilbe, Chiara Volani, David Haschka, Christiane Heim, Kristina Auer, Daniela Lener, Lucas B Zeiger, Christa Pfeifhofer-Obermair, Anna Boehm, Gerald J Obermair, Cornelia Ablinger, Stefan Coassin, Claudia Lamina, Juliane Kager, Verena Petzer, Malte Asshoff, Andrea Schroll, Manfred Nairz, Stefanie Dichtl, Markus Seifert, Laura von Raffay, Christine Fischer, Marina Barros-Pinkelnig, Natascha Brigo, Lara Valente de Souza, Sieghart Sopper, Jakob Hirsch, Michael Graber, Can Gollmann-Tepeköylü, Johannes Holfeld, Julia Halper, Sophie Macheiner, Johanna Gostner, Georg F Vogel, Raimund Pechlaner, Patrizia Moser, Medea Imboden, Pedro Marques-Vidal, Nicole M Probst-Hensch, Heike Meiselbach, Konstantin Strauch, Annette Peters, Bernhard Paulweber, Johann Willeit, Stefan Kiechl, Florian Kronenberg, Igor Theurl, Ivan Tancevski, Guenter Weiss
AIMS: Imbalances of iron metabolism have been linked to the development of atherosclerosis. However, subjects with hereditary haemochromatosis have a lower prevalence of cardiovascular disease. The aim of our study was to understand the underlying mechanisms by combining data from genome-wide association study analyses in humans, CRISPR/Cas9 genome editing, and loss-of-function studies in mice. METHODS AND RESULTS: Our analysis of the Global Lipids Genetics Consortium (GLGC) dataset revealed that single nucleotide polymorphisms (SNPs) in the haemochromatosis gene HFE associate with reduced low-density lipoprotein cholesterol (LDL-C) in human plasma...
March 30, 2020: European Heart Journal
#38
Vaida Sudmantaitė, Jelena Čelutkienė, Sigita Glaveckaite, Rimgaudas Katkus
BACKGROUND: Primary iron overload cardiomyopathy is an important and potentially preventable cause of heart failure (HF), usually manifesting in the 4-5th decade of life. Patients may be asymptomatic early in the disease with hidden progression of cardiac dysfunction. The challenge of timely detection is an awareness of this systemic disorder and an adequate degree of clinical vigilance. CASE SUMMARY: A 48-year-old man was referred to the university clinic due to the episode of atrial fibrillation...
February 2020: European Heart Journal. Case Reports
#39
REVIEW
Catherine R Murphree, Nga N Nguyen, Vikram Raghunathan, Sven R Olson, Thomas DeLoughery, Joseph J Shatzel
Hereditary haemochromatosis, one of the most common genetic disorders in the United States, can produce systemic iron deposition leading to end-organ failure and death if untreated. The diagnosis of this condition can be challenging as elevated serum ferritin may be seen in a variety of conditions, including acute and chronic liver disease, a range of systemic inflammatory states, and both primary and secondary iron overload syndromes. Appropriate and timely diagnosis of haemochromatosis is paramount as simple interventions, such as phlebotomy, can prevent or reverse organ damage from iron overload...
May 2020: Vox Sanguinis
#40
JOURNAL ARTICLE
(no author information available yet)
No abstract text is available yet for this article.
October 23, 2019: BMJ: British Medical Journal
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