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Haemochromatosis

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https://www.readbyqxmd.com/read/28624652/association-of-transferrin-saturation-with-the-arthropathy-of-hereditary-haemochromatosis
#1
EDITORIAL
N L Whalen, J K Olynyk
No abstract text is available yet for this article.
June 14, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28617785/haemochromatosis-evaluating-the-effectiveness-of-a-novel-patient-self-management-approach-to-venesection-as-blood-donation
#2
Sonam Mishra, Dalice Sim, Peter Flanagan
AIM: We set out to evaluate the effectiveness of a new model of self management of haemochromatosis, whereby patients with stable ferritin control were discharged from the New Zealand Blood Service (NZBS) therapeutic venesection clinic and educated to manage their own venesection by regular blood donation and annual serum ferritin check by their general practitioner. METHOD: Data regarding the frequency of blood donation and serum ferritin level were collected from the NZBS and Concerto records of haemochromatosis patients in the Wellington region who had been discharged back to the care of their general practitioner between January 2014 and June 2015...
June 16, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/28540293/altered-erythropoiesis-in-mouse-models-of-type-3-hemochromatosis
#3
R M Pellegrino, F Riondato, L Ferbo, M Boero, A Palmieri, L Osella, P Pollicino, B Miniscalco, G Saglio, A Roetto
Type 3 haemochromatosis (HFE3) is a rare genetic iron overload disease which ultimately lead to compromised organs functioning. HFE3 is caused by mutations in transferrin receptor 2 (TFR2) gene that codes for two main isoforms (Tfr2α and Tfr2β). Tfr2α is one of the hepatic regulators of iron inhibitor hepcidin. Tfr2β is an intracellular isoform of the protein involved in the regulation of iron levels in reticuloendothelial cells. It has been recently demonstrated that Tfr2 is also involved in erythropoiesis...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28514781/hepcidin-homeostasis-and-diseases-related-to-iron-metabolism
#4
Cadiele Oliana Reichert, Joel da Cunha, Débora Levy, Luciana Morganti Ferreira Maselli, Sérgio Paulo Bydlowski, Celso Spada
Iron is an essential metal for cell survival that is regulated by the peptide hormone hepcidin. However, its influence on certain diseases is directly related to iron metabolism or secondary to underlying diseases. Genetic alterations influence the serum hepcidin concentration, which can lead to an iron overload in tissues, as observed in haemochromatosis, in which serum hepcidin or defective hepcidin synthesis is observed. Another genetic imbalance of iron is iron-refractory anaemia, in which serum concentrations of hepcidin are increased, precluding the flow and efflux of extra- and intracellular iron...
2017: Acta Haematologica
https://www.readbyqxmd.com/read/28404095/type-3c-pancreatogenic-diabetes-mellitus-secondary-to-chronic-pancreatitis-and-pancreatic-cancer
#5
REVIEW
Phil A Hart, Melena D Bellin, Dana K Andersen, David Bradley, Zobeida Cruz-Monserrate, Christopher E Forsmark, Mark O Goodarzi, Aida Habtezion, Murray Korc, Yogish C Kudva, Stephen J Pandol, Dhiraj Yadav, Suresh T Chari
Diabetes mellitus is a group of diseases defined by persistent hyperglycaemia. Type 2 diabetes, the most prevalent form, is characterised initially by impaired insulin sensitivity and subsequently by an inadequate compensatory insulin response. Diabetes can also develop as a direct consequence of other diseases, including diseases of the exocrine pancreas. Historically, diabetes due to diseases of the exocrine pancreas was described as pancreatogenic or pancreatogenous diabetes mellitus, but recent literature refers to it as type 3c diabetes...
November 2016: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28399358/care-for-haemoglobinopathy-patients-in-slovakia
#6
Viera Fábryová, Peter Božek, Monika Drakulová, Andrea Kollárová, Zuzana Laluhová Striežencová, Michaela Macichová, Adriena Sakalová
BACKGROUND: The paper presents the results od 22-year study of screening and follow-up of haemoglobinopathies in Slovakia, an overview of genetic mutations, the coincidence with hereditary haemochromatosis mutations, and the procedure in genetic councelling. METHODS: Between 1993-2015, in three centres in Bratislava and in one centre in Kosice, carriers of beta-thalassaemic genes or other haemoglobinopathies were searched for. Diagnosis was performed by haematologists, whereby the family history was evaluated, together with the overall clinical condition, blood count and blood smear, iron and haemolysis parameters, mutations of hereditary haemochromatosis, and haemoglobin electrophoresis testing...
March 2017: Central European Journal of Public Health
https://www.readbyqxmd.com/read/28303071/the-regulation-of-iron-absorption-and-homeostasis
#7
REVIEW
Daniel F Wallace
Iron is an essential element in biology, required for numerous cellular processes. Either too much or too little iron can be detrimental, and organisms have developed mechanisms for balancing iron within safe limits. In mammals there are no controlled mechanisms for the excretion of excess iron, hence body iron homeostasis is regulated at the sites of absorption, utilisation and recycling. This review will discuss the discoveries that have been made in the past 20 years into advancing our understanding of iron homeostasis and its regulation...
May 2016: Clinical Biochemist. Reviews
https://www.readbyqxmd.com/read/28276324/tfr2-related-haemochromatosis-in-the-netherlands-a-cause-of-arthralgia-in-young-adulthood
#8
T M A Peters, A F M Meulders, K Redert, M L H Cuijpers, A J M Rennings, M C H Janssen, N M A Blijlevens, D W Swinkels
BACKGROUND: Type 3 hereditary haemochromatosis (HH) is a rare iron overload disorder caused by variants in the transferrin 2 receptor (TFR2) gene. We aim to present characteristics of patients diagnosed with TFR2-HH in the Netherlands, in order to increase knowledge and awareness of this disease. METHODS: We collected clinical, biochemical and genetic data from four patients from three families diagnosed with HH type 3 in the Netherlands between 2009 and 2016. RESULTS: Three women and one man diagnosed with HH type 3 presented with arthralgia and elevated ferritin levels and transferrin saturation (TSAT) at ages 25-41 years...
March 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/28273330/interventions-for-hereditary-haemochromatosis-an-attempted-network-meta-analysis
#9
REVIEW
Elena Buzzetti, Maria Kalafateli, Douglas Thorburn, Brian R Davidson, Emmanuel Tsochatzis, Kurinchi Selvan Gurusamy
BACKGROUND: Hereditary haemochromatosis is a genetic disorder related to proteins involved in iron transport, resulting in iron load and deposition of iron in various tissues of the body. This iron overload leads to complications including liver cirrhosis (and related complications such as liver failure and hepatocellular carcinoma), cardiac failure, cardiac arrhythmias, impotence, diabetes, arthritis, and skin pigmentation. Phlebotomy (venesection or 'blood letting') is the currently recommended treatment for hereditary haemochromatosis...
March 8, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28260267/performing-therapeutic-venesection-in-a-doctor-s-surgery
#10
Lim Hy, Ho Wk Ho
BACKGROUND: Although venesection was widely applied in the past for the treatment of various ailments and diseases, in modern medical practice, it is indicated in very few conditions, namely, hereditary haemochromatosis, polycythaemia and porphyria cutanea tarda. OBJECTIVE: This article briefly reviews the pathophysiology of these conditions, and the rationale and goals of therapeutic venesection as a treatment modality. It also summarises the venesection procedure itself and the considerations for setting up a venesection service in a doctor's surgery...
March 2017: Australian Family Physician
https://www.readbyqxmd.com/read/28101309/patients-with-haemoglobinopathies-and-chronic-hepatitis-c-a-real-difficult-to-treat-population-in-2016
#11
Kalliopi Zachou, Pinelopi Arvaniti, Nikolaos K Gatselis, Kalliopi Azariadis, Georgia Papadamou, Eirini Rigopoulou, George N Dalekos
BACKGROUND & OBJECTIVES: In the past, patients with haemoglobinopathies were at high risk of acquiring hepatitis C virus (HCV) due to multiple transfusions before HCV screening. In these patients, the coexistence of haemochromatosis and chronic hepatitis C (CHC) often leads to more severe liver disease. We assessed the HCV prevalence, clinical characteristics and outcome in this setting with particular attention to the response to treatment including therapies with the new direct acting antivirals (DAAs)...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28052950/sepsis-and-siderosis-yersinia-enterocolitica-and-hereditary-haemochromatosis
#12
Phoebe A Thwaites, Marion L Woods
A 60-year-old woman was admitted with sepsis, relative bradycardia, CT evidence of numerous small liver abscesses and 'skin bronzing' consistent with hereditary haemochromatosis (HH). Yersinia enterocolitica O:9 infection was confirmed by serology specimens taken 10 days apart. Iron overload was detected, and homozygous C282Y gene mutation confirmed HH. Liver biopsy revealed grade IV siderosis with micronodular cirrhosis. Haemochromatosis is a common, inherited disorder leading to iron overload that can produce end-organ damage from excess iron deposition...
January 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28035629/cost-effectiveness-of-different-population-screening-strategies-for-hereditary-haemochromatosis-in-australia
#13
Barbara de Graaff, Amanda Neil, Lei Si, Kwang Chien Yee, Kristy Sanderson, Lyle Gurrin, Andrew J Palmer
INTRODUCTION: Amongst populations of northern European ancestry, HFE-associated haemochromatosis is a common genetic disorder characterised by iron overload. In the absence of treatment, excess iron is stored in parenchymal tissues, causing morbidity and mortality. Population screening programmes may increase early diagnosis and reduce associated disease. No contemporary health economic evaluation has been published for Australia. The objective of this study was to identify cost-effective screening strategies for haemochromatosis in the Australian setting...
December 29, 2016: Applied Health Economics and Health Policy
https://www.readbyqxmd.com/read/28019068/using-iron-studies-to-predict-hfe-mutations-in-new-zealand-implications-for-laboratory-testing
#14
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/28004554/hereditary-haemochromatosis-through-150-years
#15
Rune Johan Ulvik
No abstract text is available yet for this article.
December 2016: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
https://www.readbyqxmd.com/read/27973074/cost-effectiveness-of-population-screening-for-haemochromatosis-in-australia-a-state-transition-model
#16
B L de Graaff, L Si, A Neil, K C Yee, K Sanderson, L C Gurrin, A J Palmer
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27973073/an-australian-national-cost-of-illness-study-for-hereditary-haemochromatosis
#17
B L de Graaff, A Neil, K Sanderson, K C Yee, A J Palmer
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27881236/deferasirox-pharmacokinetics-evaluation-in-a-woman-with-hereditary-haemochromatosis-and-heterozygous-%C3%AE-thalassaemia
#18
Sarah Allegra, Silvia De Francia, Filomena Longo, Davide Massano, Jessica Cusato, Arianna Arduino, Elisa Pirro, Antonio Piga, Antonio D'Avolio
We present the deferasirox pharmacokinetics evaluation of a female patient on iron chelation, for the interesting findings from her genetic background (hereditary haemochromatosis and heterozygous β-thalassaemia) and clinical history (ileostomy; iron overload from transfusions). Drug plasma concentrations were measured by an HPLC-UV validated method, before and after ileum resection. Area under deferasirox concentration curve over 24h (AUC) values were determined by the mixed log-linear rule, using Kinetica software...
December 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27873744/q-fever-hepatitis-and-endocarditis-in-the-context-of-haemochromatosis
#19
REVIEW
Hesham Elgouhari, Mark K Huntington
Hereditary haemochromatosis is associated with increased susceptibility to some infections. We report here a case of Q fever in a patient with coexistent haemochromatosis. The literature is reviewed in regard to the effect of haemochromatosis on susceptibility to infectious disease in general and Q fever in particular. Although there is documented increased risk in these patients for some infectious conditions, a specific association with Q fever has not been previously reported. The present report raises the possibility of such a clinically relevant connection...
November 9, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27733158/key-interventions-derived-from-three-evidence-based-guidelines-for-management-and-follow-up-of-patients-with-hfe-haemochromatosis
#20
Annick Vanclooster, Hub Wollersheim, Kris Vanhaecht, Dorine Swinkels, Bert Aertgeerts, David Cassiman
BACKGROUND: HFE-related hereditary haemochromatosis (HH) is a common autosomal recessive disorder with clinical manifestations ranging from asymptomatic disease to possible life-threatening complications. Cirrhosis, hepatocellular carcinoma, diabetes mellitus or osteoporosis can develop in HH patients not treated or monitored optimally. The purpose of this study was to develop key-interventions (KI's) to measure and improve the quality of care delivered to patients diagnosed with HH. METHODS: A RAND-Modified Delphi method was used to develop KI's...
October 13, 2016: BMC Health Services Research
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