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Hereditary haemochromatosis

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
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...
October 10, 2016: British Journal of Haematology
Safwaan Adam, Sheila Grecian, Akheel A Syed
No abstract text is available yet for this article.
September 10, 2016: QJM: Monthly Journal of the Association of Physicians
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...
2016: BMJ Case Reports
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
Muhajir Mohamed, Jehan Phillips
No abstract text is available yet for this article.
2016: BMJ: British Medical Journal
A Richardson, A Prideaux, P Kiely
OBJECTIVES: To examine demographic and clinical features leading to the diagnosis of hereditary haemochromatosis and assess factors that might enhance earlier diagnosis, with particular attention to arthritic symptoms. METHOD: Diagnostic features were captured directly from patients with haemochromatosis attending a specialist rheumatology clinic (group 1) and from analysis of a specifically designed questionnaire circulated to members of the UK Haemochromatosis Society (group 2)...
May 17, 2016: Scandinavian Journal of Rheumatology
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
Pauline L M Verhaegh, Wenke Moris, Ger H Koek, Cees Th B M van Deursen
OBJECTIVE: Phenotypes of the HFE-related haemochromatosis vary considerably, making it hard to predict the course of iron accumulation. The aim of this retrospective study was to determine if the Iron Avidity Index (IAI) is a good phenotypic predictor of the number of phlebotomies needed per year during maintenance treatment (NPDMT) in patients with homozygous p.C282Y hereditary haemochromatosis (HH). METHODS: Patients with HH homozygous for p.C282Y, on maintenance treatment for at least 1 year were included...
October 2016: Liver International: Official Journal of the International Association for the Study of the Liver
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
Barbara de Graaff, Amanda Neil, Kristy Sanderson, Kwang Chien Yee, Andrew J Palmer
BACKGROUND: Hereditary hemochromatosis (HH) is a common autosomal recessive disorder amongst persons of northern European heritage. If untreated, iron accumulates in parenchymal tissues causing morbidity and mortality. As diagnosis often follows irreversible organ damage, screening programs have been suggested to increase early diagnosis. A lack of economic evidence has been cited as a barrier to establishing such a program. Previous analyses used poorly estimated utility values. This study sought to measure utilities directly from people with HH in Australia...
2016: Health and Quality of Life Outcomes
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
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
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
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
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
Sim Yee Ong, Lara Dolling, Jeannette L Dixon, Amanda J Nicoll, Lyle C Gurrin, Michelle Wolthuizen, Erica M Wood, Greg J Anderson, Grant A Ramm, Katrina J Allen, John K Olynyk, Darrell Crawford, Jennifer Kava, Louise E Ramm, Paul Gow, Simon Durrant, Lawrie W Powell, Martin B Delatycki
INTRODUCTION: HFE p.C282Y homozygosity is the most common cause of hereditary haemochromatosis. There is currently insufficient evidence to assess whether non-specific symptoms or hepatic injury in homozygotes with moderately elevated iron defined as a serum ferritin (SF) of 300-1000 µg/L are related to iron overload. As such the evidence for intervention in this group is lacking. We present here methods for a study that aims to evaluate whether non-specific symptoms and hepatic fibrosis markers improve with short-term normalisation of SF in p...
2015: BMJ Open
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
Kosha Mehta, Pamela Greenwell, Derek Renshaw, Mark Busbridge, Mitla Garcia, Sebastien Farnaud, Vinood B Patel
Iron overload coupled with low hepcidin levels are characteristics of hereditary haemochromatosis. To understand the role of transferrin receptor (TFR) and intracellular iron in hepcidin secretion, Chinese hamster ovary transferrin receptor variant (CHO TRVb-1) cells were used that express iron-response-element-depleted human TFRC mRNA (TFRC∆IRE). Results showed that CHO TRVb-1 cells expressed higher basal levels of cell-surface TFR1 than HepG2 cells (2.2-fold; p < 0.01) and following 5 g/L holotransferrin treatment maintained constitutive over-expression at 24h and 48 h, contrasting the HepG2 cells where the receptor levels significantly declined...
August 2015: Blood Cells, Molecules & Diseases
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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