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Genetic Haemochromatosis

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https://www.readbyqxmd.com/read/28276324/tfr2-related-haemochromatosis-in-the-netherlands-a-cause-of-arthralgia-in-young-adulthood
#1
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
#2
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/28035629/cost-effectiveness-of-different-population-screening-strategies-for-hereditary-haemochromatosis-in-australia
#3
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/27881236/deferasirox-pharmacokinetics-evaluation-in-a-woman-with-hereditary-haemochromatosis-and-heterozygous-%C3%AE-thalassaemia
#4
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/27723100/how-we-manage-patients-with-hereditary-haemochromatosis
#5
REVIEW
Eva Rombout-Sestrienkova, Marian G J van Kraaij, Ger H Koek
A number of disorders cause iron overload: some are of genetic origin, such as hereditary haemochromatosis, while others are acquired, for instance due to repeated transfusions. This article reviews the treatment options for hereditary haemochromatosis, with special attention to the use of erythrocytapheresis. In general, therapy is based on the removal of excess body iron, for which ferritin levels are used to monitor the effectiveness of treatment. For many decades phlebotomy has been widely accepted as the standard treatment...
December 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27178546/genetic-explanations-discrimination-and-chronic-illness-a-qualitative-study-on-hereditary-haemochromatosis-in-germany
#6
Ulrike Manz
OBJECTIVE: The objective of this study is to explore the discriminatory impacts of genetic diagnosis for people living with the chronic illness of hereditary haemochromatosis in Germany. METHODS: Semi-structured interviews with 15 patients; all had tested positive for a genetic mutation associated with haemochromatosis and already displayed symptoms of the disease. Inductive approach, with interviews collaboratively interpreted by the research group in a vertical and horizontal analysis informed by a multi-person perspective...
May 12, 2016: Chronic Illness
https://www.readbyqxmd.com/read/27062493/increased-iron-stores-prolong-the-qt-interval-a-general-population-study-including-20%C3%A2-261-individuals-and-meta-analysis-of-thalassaemia-major
#7
Lise Fischer Henriksen, Anne-Sofie Petri, Hans Carl Hasselbalch, Jørgen Kim Kanters, Christina Ellervik
The prolongation of cardiac repolarization (QT interval) has been investigated in studies of patients with secondary iron overload. However, no previous population-based study examining the effect of increased iron stores on QT interval prolongation has previously been undertaken. We tested the hypothesis that increased iron stores and haemochromatosis genotype (genetically increased iron stores) are associated with prolongation of the QT interval. We included 20 261 individuals from the Danish General Suburban Population Study and examined differences in QT interval according to ferritin concentration, transferrin saturation, iron concentration, transferrin concentration and haemochromatosis genotype (C282Y/C282Y)...
September 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/26975792/haemochromatosis
#8
REVIEW
Lawrie W Powell, Rebecca C Seckington, Yves Deugnier
Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma has been the variable clinical expression with some patients presenting with hepatic cirrhosis at a young age and others almost asymptomatic for life...
August 13, 2016: Lancet
https://www.readbyqxmd.com/read/26951056/endocrine-dysfunction-in-hereditary-hemochromatosis
#9
REVIEW
C Pelusi, D I Gasparini, N Bianchi, R Pasquali
Hereditary hemochromatosis (HH) is a genetic disorder of iron overload and subsequent organ damage. Five types of HH are known, classified by age of onset, genetic cause, clinical manifestations and mode of inheritance. Except for the rare form of juvenile haemochromatosis, symptoms do not usually appear until after decades of progressive iron loading and may be triggered by environmental and lifestyle factors. Despite the last decades discovery of genetic and phenotype diversity of HH, early studies showed a frequent involvement of the endocrine glands where diabetes and hypogonadism are the most common encountered endocrinopathies...
August 2016: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/26893171/the-risk-of-new-onset-cancer-associated-with-hfe-c282y-and-h63d-mutations-evidence-from-87-028-participants
#10
Yang-Fan Lv, Xian Chang, Rui-Xi Hua, Guang-Ning Yan, Gang Meng, Xiao-Yu Liao, Xi Zhang, Qiao-Nan Guo
To investigate the association between mutation of HFE (the principal pathogenic gene in hereditary haemochromatosis) and risk of cancer, we conducted a meta-analysis of all available case-control or cohort studies relating to two missense mutations, C282Y and H63D mutations. Eligible studies were identified by searching databases including PubMed, Embase and the ISI Web of Knowledge. Overall and subgroup analyses were performed and odds ratios (ORs) combined with 95% confidence intervals (CIs) were applied to evaluate the association between C282Y mutation, H63D mutation and cancer risk...
July 2016: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/26840933/-porphyria-cutanea-tarda-the-benefit-of-additional-diagnostics
#11
Allard R J V Vossen, Lianne S M Boesten, Peter D Siersema, Ruud G L Nellen
The porphyrias are a clinically and genetically heterogeneous group of relatively rare metabolic diseases that result from disorders in the biosynthesis of haeme. Porphyria cutanea tarda (PCT) is the most common type, accounting for 80-90% of all porphyrias, and is essentially an acquired disease, although PCT can also occur on a familial basis. We describe a 71-year-old female and a 62-year-old male patient, both of whom had several risk factors for developing PCT, ranging from iron overload due to a mutation in the hereditary haemochromatosis protein (HFE) gene, alcohol use, smoking, and exogenous oestrogen, to persistent hepatitis C infection...
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/26715163/alterations-in-sympathetic-nerve-traffic-in-genetic-haemochromatosis-before-and-after-iron-depletion-therapy-a-microneurographic-study
#12
Gino Seravalle, Alberto Piperno, Raffaella Mariani, Irene Pelloni, Rita Facchetti, Raffaella Dell'Oro, Cesare Cuspidi, Giuseppe Mancia, Guido Grassi
AIMS: Haemochromatosis (HH) displays a number of circulatory alterations concurring at increase cardiovascular risk. Whether these include sympathetic abnormalities in unknown. METHODS AND RESULTS: In 18 males with primary HH (age: 42.3 ± 10.4 years, mean ± SD), clinic and beat-to-beat blood pressure (BP, Finapres), heart rate (HR, EKG), and muscle sympathetic nerve activity (MSNA, microneurography) traffic were measured in the iron overload state and after iron depletion therapy...
March 21, 2016: European Heart Journal
https://www.readbyqxmd.com/read/26613252/iron-in-frontotemporal-lobar-degeneration-a-new-subcortical-pathological-pathway
#13
Stefano Gazzina, Enrico Premi, Isabella Zanella, Giorgio Biasiotto, Silvana Archetti, Maura Cosseddu, Elio Scarpini, Daniela Galimberti, Maria Serpente, Roberto Gasparotti, Alessandro Padovani, Barbara Borroni
INTRODUCTION: Brain iron homeostasis dysregulation has been widely related to neurodegeneration. In particular, human haemochromatosis protein (HFE) is involved in iron metabolism, and HFE H63D polymorphism has been related to the risk of amyotrophic lateral sclerosis and Alzheimer's disease. Recently, iron accumulation in the basal ganglia of frontotemporal lobar degeneration (FTLD) patients has been described. OBJECTIVE: To explore the relationship between HFE genetic variation and demographic, clinical and imaging characteristics in a large cohort of FTLD patients...
2016: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/26599486/hypotestosteronaemia-in-the-aging-male-should-we-treat-it
#14
REVIEW
Nora Christe, Christoph A Meier
The term male hypogonadism is defined as the failure to maintain physiological concentrations of testosterone, a physiological quantity of sperm or the combination of both. Aetiologically, androgen deficiency can originate from the testes (primary hypogonadism) or from the hypothalamic-pituitary regulation of the testicular function (secondary hypogonadism). The causes of hypogonadism are very diverse and may be genetically determined (e.g. Klinefelter's syndrome) or acquired (tumours, infections, haemochromatosis)...
2015: Swiss Medical Weekly
https://www.readbyqxmd.com/read/26596411/iron-metabolism-and-related-genetic-diseases-a-cleared-land-keeping-mysteries
#15
REVIEW
Pierre Brissot, Olivier Loréal
Body iron has a very close relationship with the liver. Physiologically, the liver synthesizes transferrin, in charge of blood iron transport; ceruloplasmin, acting through its ferroxidase activity; and hepcidin, the master regulator of systemic iron. It also stores iron inside ferritin and serves as an iron reservoir, both protecting the cell from free iron toxicity and ensuring iron delivery to the body whenever needed. The liver is first in line for receiving iron from the gut and the spleen, and is, therefore, highly exposed to iron overload when plasma iron is in excess, especially through its high affinity for plasma non-transferrin bound iron...
February 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/26510149/therapeutic-venesection-at-the-australian-red-cross-blood-service-impact-of-the-high-ferritin-application-on-management-of-hereditary-haemochromatosis
#16
Peter Bentley, Barbara Bell, John Olynyk
BACKGROUND: Therapeutic venesection is an established treatment for hereditary haemochromatosis. The C282Y homozygotes and C282Y/H63D compound heterozygotes are the most likely human haemochromatosis protein (HFE) variants to cause iron over-load. The principal indications for treatment include iron overload, which is detected through measurement of hepatic iron concentration or a liver biopsy, or suspected iron-overload on the basis of elevated serum ferritin levels. Venesection is not indicated for other HFE genetic variants or in patients with isolated hyperferritinaemia in the absence of the main HFE gene mutations...
August 2015: Australian Family Physician
https://www.readbyqxmd.com/read/26474245/the-role-of-genetic-factors-in-patients-with-hepatocellular-carcinoma-and-iron-overload-a-prospective-series-of-234-patients
#17
Natalie Funakoshi, Iphigénie Chaze, Anne-Sophie Alary, Gaëlle Tachon, Séverine Cunat, Muriel Giansily-Blaizot, Michael Bismuth, Dominique Larrey, Georges-Philippe Pageaux, Jean-François Schved, Hélène Donnadieu-Rigole, Pierre Blanc, Patricia Aguilar-Martinez
BACKGROUND & AIMS: Iron overload (IO) in HFE-related hereditary haemochromatosis is associated with increased risk of liver cancer. This study aimed to investigate the role of other genes involved in hereditary IO among patients with hepatocellular carcinoma (HCC). METHODS: Patients with HCC diagnosed in our institution were included in this prospective study. Those with ferritin levels ≥300 μg/L (males) or ≥200 μg/L (females) and/or transferrin saturation ≥50% (males) or ≥45% (females) had liver iron concentration (LIC) evaluated by MRI...
May 2016: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/26255179/a-systematic-review-and-narrative-synthesis-of-health-economic-studies-conducted-for-hereditary-haemochromatosis
#18
REVIEW
Barbara de Graaff, Amanda Neil, Kristy Sanderson, Lei Si, Kwang Chien Yee, Andrew J Palmer
BACKGROUND: Hereditary haemochromatosis (HH) is a common genetic condition amongst people of northern European heritage. HH is associated with increased iron absorption leading to parenchymal organ damage and multiple arthropathies. Early diagnosis and treatment prevents complications. Population screening may increase early diagnosis, but no programmes have been introduced internationally: a paucity of health economic data is often cited as a barrier. OBJECTIVE: To conduct a systematic review of all health economic studies in HH...
October 2015: Applied Health Economics and Health Policy
https://www.readbyqxmd.com/read/26210325/decreasing-iron-related-indexes-without-anaemia-in-a-patient-with-genetic-haemochromatosis
#19
Clara Benedetta Conti, Alessandra Baccarin, Dario Conte, Mirella Fraquelli
Present case report refers to a 48-year-old man with genetic haemochromatosis (C282Y mut/mut) diagnosed at the age of 26. After aggressive iron depleting regimen carried out up to normalization of iron-related indexes, he received a maintenance regimen based on regular phlebotomies for about 20 years. In 2014, a marked reduction of both serum ferritin and transferrin saturation percent, without concomitant anaemia, was noted on two different occasions at 5-month interval. An obscure occult GI bleeding was suspected, but both upper and lower GI tract endoscopy were negative for abnormal findings, as also was a detailed abdominal US scan...
October 2015: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/26059880/novel-gain-of-function-mutation-in-the-slc40a1-gene-associated-with-hereditary-haemochromatosis-type-4
#20
S-R Chen, L-Q Yang, Y-T Chong, Y-S Jie, Y-K Wu, J Yang, G-L Lin, X-H Li
Here we report the case of a 69-year-old Chinese Han woman who presented with liver cirrhosis, diabetes mellitus, skin hyperpigmentation, hyperferritinaemia and high transferrin saturation. Subsequent genetic analyses identified a novel heterozygous mutation (p.Cys326Phe) in the SLC40A1 gene. This is the first report regarding a SLC40A1 mutation in the Chinese Han population and provides novel clinical evidence for the importance of p.Cys326 in SLC40A1 gene function.
June 2015: Internal Medicine Journal
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