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Genetic Haemochromatosis

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https://www.readbyqxmd.com/read/29769185/unusual-case-of-iron-overload-with-cancer-mimicking-abdominal-splenosis
#1
Giacomo Marchi, Giacomo Avesani, Alberto Zamò, Domenico Girelli
A 48-year-old man, former alcohol abuser and drug addicted, was referred to our tertiary referral centre for iron disorders because of marked hyperferritinaemia. His clinical history revealed chronic hepatitis C, ß-thalassaemia trait and post-traumatic splenectomy at age of 22. MRI-estimated liver iron content was markedly elevated, while first-line genetic test for haemochromatosis was negative. Alpha-fetoprotein was increased but liver ultrasonography did not reveal focal liver lesions. Multiphasic contrast-enhanced CT confirmed this result but showed two abdominal masses (diameter of 9 cm and 7 cm, respectively) among bowel loops, strongly suspicious for cancer...
May 16, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29722188/haemochromatosis-a-clinical-update-for-the-practising-physician
#2
Daniel E Radford-Smith, Elizabeth E Powell, Lawrie W Powell
Haemochromatosis is most commonly due to the autosomal recessive inheritance of a C282Y substitution in the HFE protein, whereby both alleles of the corresponding gene are affected. The disease is characterised by an inappropriate increase in intestinal iron absorption due to reduced expression of the iron regulatory protein, hepcidin. Progressive iron deposition in parenchymal tissues may ultimately lead to liver and other organ toxicity. The characteristic biochemical abnormalities are raised serum ferritin and transferrin saturation, which can be used in conjunction with genetic tests and emerging magnetic resonance imaging-based techniques to diagnose patients with the disorder...
May 2018: Internal Medicine Journal
https://www.readbyqxmd.com/read/29710680/eryptosis-in-haemochromatosis-implications-for-rheology
#3
Jeanette N du Plooy, Janette Bester, Etheresia Pretorius
BACKGROUND: Haemochromatosis is an iron-storage disease with different genetic mutations, characterized by an increased intestinal absorption of iron, resulting in a deposition of excessive amounts of iron in parenchymal cells. When the iron is released in the blood, it is left in an unliganded form, where it can participate in Haber-Weiss and Fenton reactions, creating hydroxyl radicals. Erythrocytes (RBCs) are particularly vulnerable to hydroxyl radical damage, which can result in eryptosis (programmed cell death similar to apoptosis)...
April 14, 2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29663319/diagnosis-and-therapy-of-genetic-haemochromatosis-review-and-2017-update
#4
EDITORIAL
Edward J Fitzsimons, Jonathan O Cullis, Derrick W Thomas, Emmanouil Tsochatzis, William J H Griffiths
No abstract text is available yet for this article.
April 16, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29660923/haemochromatosis-pathophysiology-and-the-red-blood-cell1
#5
Kieran J Richardson, Antony P McNamee, Michael J Simmonds
Haemochromatosis remains the most prevalent genetic disorder of Caucasian populations in Australia and the United States, occurring in ∼1 of 200 individuals and having a carrier frequency of 10-14%. Hereditary haemochromatosis is an autosomal recessive condition, that is phenotypically characterised by a gradual accumulation of iron, above and beyond that required for biological function. Once the binding capacity of iron carriers reaches saturation, the highly reactive free iron generates radicals that may lead to widespread cellular dysfunction...
April 7, 2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29620054/haemochromatosis
#6
REVIEW
Pierre Brissot, Antonello Pietrangelo, Paul C Adams, Barbara de Graaff, Christine E McLaren, Olivier Loréal
Haemochromatosis is defined as systemic iron overload of genetic origin, caused by a reduction in the concentration of the iron regulatory hormone hepcidin, or a reduction in hepcidin-ferroportin binding. Hepcidin regulates the activity of ferroportin, which is the only identified cellular iron exporter. The most common form of haemochromatosis is due to homozygous mutations (specifically, the C282Y mutation) in HFE, which encodes hereditary haemochromatosis protein. Non-HFE forms of haemochromatosis due to mutations in HAMP, HJV or TFR2 are much rarer...
April 5, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/29126545/mri-ankle-and-subtalar-characteristics-in-haemochromatosis-arthropathy-a-case-control-study
#7
A Elstob, V Ejindu, C W Heron, P D W Kiely
AIM: To examine the magnetic resonance imaging (MRI) features of the ankle and subtalar joints that might distinguish genetic haemochromatosis (GH). MATERIALS AND METHODS: The present study was a retrospective case-control study comparing 30 MRI studies of GH patients with ankle or subtalar arthropathy with 30 matched controls with ankle pain. Anonymised images were scored using a semi-quantative tool adapted from the MRI osteoarthritis knee score. Scores were generated for bone marrow lesions size, number, and distinguishing the proportion of each lesion consisting of subchondral cyst versus oedema...
March 2018: Clinical Radiology
https://www.readbyqxmd.com/read/29120023/role-of-liver-magnetic-resonance-imaging-in-hyperferritinaemia-and-the-diagnosis-of-iron-overload
#8
Axel Ruefer, Christine Bapst, Rudolf Benz, Jens Bremerich, Nathan Cantoni, Laura Infanti, Kaveh Samii, Mathias Schmid, Jean-Paul Vallée
Hyperferritinaemia is a frequent clinical problem. Elevated serum ferritin levels can be detected in different genetic and acquired diseases and can occur with or without anaemia. It is therefore important to determine whether hyperferritinaemia is due to iron overload or due to a secondary cause. The main causes of iron overload are intestinal iron hyperabsorption disorders and transfusion-dependent disorders. Iron homeostasis and iron overload are quantified by different diagnostic approaches. The evaluation of serum ferritin and transferrin saturation is the first diagnostic step to identify the cause of hyperferritinaemia...
November 9, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28540293/altered-erythropoiesis-in-mouse-models-of-type-3-hemochromatosis
#9
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 (Tfr2 α and Tfr2 β ). Tfr2 α is one of the hepatic regulators of iron inhibitor hepcidin. Tfr2 β 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
#10
REVIEW
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/28399358/care-for-haemoglobinopathy-patients-in-slovakia
#11
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/28276324/tfr2-related-haemochromatosis-in-the-netherlands-a-cause-of-arthralgia-in-young-adulthood
#12
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
#13
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
#14
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...
August 2017: 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
#15
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
#16
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
#17
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...
December 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
#18
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
#19
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
#20
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
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