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Hereditary haemochromatosis

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https://www.readbyqxmd.com/read/28930516/new-targeted-therapies-and-diagnostic-methods-for-iron-overload-diseases
#1
Annita Kolnagou, Christina N Kontoghiorghe, George John Kontoghiorghes
Millions of people worldwide suffer from iron overload toxicity diseases such as transfusional iron overload in thalassaemia and hereditary haemochromatosis. The accumulation and presence of toxic focal iron deposits causing tissue damage can also be identified in Friedreich's ataxia, Alzheimer's, Parkinson's, renal and other diseases. Different diagnostic criteria of toxicity and therapeutic interventions apply to each disease of excess or misplaced iron. Magnetic resonance imaging relaxation times T2 and T2* for monitoring iron deposits in organs and iron biomarkers such as serum ferritin and transferrin iron saturation have contributed in the elucidation of iron toxicity mechanisms and pathways, and also the evaluation of the efficacy and mode of action of chelating drugs in the treatment of diseases related to iron overload, toxicity and metabolism...
January 1, 2018: Frontiers in Bioscience (Scholar Edition)
https://www.readbyqxmd.com/read/28624652/association-of-transferrin-saturation-with-the-arthropathy-of-hereditary-hemochromatosis
#2
EDITORIAL
Nancy L Whalen, John K Olynyk
No abstract text is available yet for this article.
June 15, 2017: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28399358/care-for-haemoglobinopathy-patients-in-slovakia
#3
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
#4
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
#5
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
#6
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
#7
REVIEW
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/28052950/sepsis-and-siderosis-yersinia-enterocolitica-and-hereditary-haemochromatosis
#8
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
#9
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/28019068/using-iron-studies-to-predict-hfe-mutations-in-new-zealand-implications-for-laboratory-testing
#10
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
#11
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/27973073/an-australian-national-cost-of-illness-study-for-hereditary-haemochromatosis
#12
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
#13
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
#14
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
#15
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
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/27634967/hereditary-haemochromatosis-presenting-with-diabetic-ketoacidosis
#17
S Adam, S Grecian, A A Syed
No abstract text is available yet for this article.
November 2016: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/27591041/protective-altruistic-phlebotomy-hereditary-haemochromatosis-presenting-as-hepatocellular-carcinoma-in-a-non-cirrhotic-83-year-old-man
#18
Kohtaro Ooka, Ifeyinwa Onyiuke, Xuchen Zhang, Tamar Hamosh Taddei
Hereditary haemochromatosis is a multisystem disorder of iron metabolism. Hepatic manifestations include hepatomegaly, cirrhosis and hepatocellular carcinoma. Hepatocellular carcinoma is almost always preceded by cirrhosis. We present a case of an 83-year-old man without history of liver disease or iron overload who presented with abdominal pain. Workup revealed mildly elevated transaminases, ferritin of 3996 and a solitary liver tumour. Biopsy was consistent with hepatocellular carcinoma in a background of haemosiderosis without cirrhosis...
September 2, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27444148/costs-associated-with-hereditary-haemochromatosis-in-australia-a-cost-of-illness-study
#19
Barbara de Graaff, Amanda Neil, Kristy Sanderson, Kwang Chien Yee, Andrew J Palmer
Objective The aim of the present study was to assess health sector, other sector and time-related (productivity) costs associated with hereditary haemochromatosis from societal, government and patient perspectives for the Australian setting.Methods A national web-based survey of people with haemochromatosis was conducted between November 2013 and February 2015. Participants completed a health survey and resource use diaries. Costs were calculated using a bottom-up approach and calculated in 2015 Australian dollars...
July 22, 2016: Australian Health Review: a Publication of the Australian Hospital Association
https://www.readbyqxmd.com/read/27365180/hereditary-haemochromatosis
#20
Muhajir Mohamed, Jehan Phillips
No abstract text is available yet for this article.
June 30, 2016: BMJ: British Medical Journal
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