Academic literature on the topic 'Haemochromatosis'

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Journal articles on the topic "Haemochromatosis"

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Campbell, Rachel. "Haemochromatosis." Nursing Standard 24, no. 22 (February 3, 2010): 59–60. http://dx.doi.org/10.7748/ns.24.22.59.s50.

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Fernandes, Tanya. "Haemochromatosis." Nursing Standard 24, no. 3 (September 23, 2009): 58. http://dx.doi.org/10.7748/ns2009.09.24.3.58.c7273.

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Campbell, Rachel. "Haemochromatosis." Nursing Standard 24, no. 22 (February 3, 2010): 59. http://dx.doi.org/10.7748/ns2010.02.24.22.59.c7520.

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WORWOOD, M. "Haemochromatosis." Clinical & Laboratory Haematology 20, no. 2 (April 1998): 65–75. http://dx.doi.org/10.1046/j.1365-2257.1998.00028.x.

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Cayley, William E. "Haemochromatosis." BMJ 336, no. 7642 (February 28, 2008): 506. http://dx.doi.org/10.1136/bmj.39357.698889.94.

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Rosenberg, William, and Andrew Davis. "Haemochromatosis." Medicine 30, no. 12 (December 2002): 63–64. http://dx.doi.org/10.1383/medc.30.12.63.28523.

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Pietrangelo, A. "Haemochromatosis." Gut 52, no. 90002 (May 1, 2003): 23ii—30. http://dx.doi.org/10.1136/gut.52.suppl_2.ii23.

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Adams, Paul C. "Haemochromatosis." European Journal of Gastroenterology & Hepatology 16, no. 9 (September 2004): 857–58. http://dx.doi.org/10.1097/00042737-200409000-00007.

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Whittington, C. A., and K. V. Kowdley. "Haemochromatosis." Alimentary Pharmacology & Therapeutics 16, no. 12 (December 2002): 1963–75. http://dx.doi.org/10.1046/j.1365-2036.2002.01371.x.

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Adams, Paul C., and James C. Barton. "Haemochromatosis." Lancet 370, no. 9602 (December 2007): 1855–60. http://dx.doi.org/10.1016/s0140-6736(07)61782-6.

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Dissertations / Theses on the topic "Haemochromatosis"

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Pointon, Jennifer Jane. "The genetics of haemochromatosis." Thesis, University of Oxford, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.249468.

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Shearman, Jeremy David. "The molecular genetics of haemochromatosis." Thesis, University of Oxford, 1996. http://ora.ox.ac.uk/objects/uuid:ecb03d17-3cbf-4147-91aa-f252a2e5137e.

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Haemochromatosis is the most common single gene disorder to afflict North- West European populations. It is probably the most common genetic disorder of iron metabolism worldwide. As many as 1 in 250 people in the UK are affected and although the phenotype causes only a mild increase in gastrointestinal iron absorption a proportion of affected individuals will accumulate sufficient iron over their life-time to cause cirrhosis and hepatocellular carcinoma. Venesection treatment instituted before cirrhosis has established ensures a normal life expectancy, but clinical presentation is often late in life after irreversible organ injury has occurred. Identification of people at risk in the early, asymptomatic stage by measurements of iron status is unreliable. The genetic defect responsible for haemochromatosis has been sought in the hope that its identification might facilitate early diagnosis and that studies on the gene product would lead to a greater understanding of the mechanisms of mammalian iron absorption. Genetic linkage to HLA-A3 placed the gene responsible for haemchromatosis in, or close to, the major histocompatibilty complex (MHC) on the short arm of chromosome 6 and a positional cloning strategy has been adopted. This thesis describes work directed to the identification of the haemochromatosis gene by positional cloning. The region telomeric to the MHC was mapped using yeast artificial chromosomes, from which new microsatellites were isolated. These markers were used in linkage disequilibrium analyses and the mapping of a recombination breakpoint that defined a haemochromatosis gene region. This region was physically mapped in fine detail and positional candidates sought by EST database analysis. Before a systematic search for genes in the region began a strong positional candidate was reported (Feder et al 1996). Analysis of this mutation in patients from the UK confirmed this to be the ancestral haemochromatosis mutation.
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Cullen, Lara Michelle. "Molecular analysis of hereditary haemochromatosis." Thesis, Queensland University of Technology, 1999.

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Lok, Chun Yu. "Understanding the molecular genetics of haemochromatosis." Thesis, University of Oxford, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.526485.

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Partridge, Jason. "Haemochromatosis : molecular genetic and functional studies." Thesis, University College London (University of London), 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.406521.

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Dixon, Jeannette. "Screening for hereditary haemochromatosis : a pilot study /." [St. Lucia, Qld. : s.n.], 2002. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe17400.pdf.

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Stone, Caroline. "Molecular and genetic mapping of the haemochromatosis locus." Thesis, University of Oxford, 1995. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.306980.

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Wallace, Daniel Frederick. "The HFE gene in haemochromatosis and liver disease." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325304.

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Rhodes, David Anthony. "Investigation of the molecular basis of hereditary haemochromatosis." Thesis, University of Cambridge, 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.627543.

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Frayling, Timothy Mark. "Beta-cell genes in the pathogenesis of type 2 diabetes." Thesis, University of Exeter, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.286587.

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Books on the topic "Haemochromatosis"

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Healy, Michael. Reticulocyte analysis, the cell-dyn 3500: Haemochromatosis and therapeutic phlebotomy. [S.l: The Author], 2003.

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The unexpected consequences of iron overload: A fund raiser for the Haemochromatosis Society. England]: James Minter, 2014.

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Campbell, Ken. Hereditary Haemochromatosis (NT Clinical Monographs). Nursing Times Books, Emap Healthcare, 1999.

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Varghese, Angel, Hayden Holmes, Haemochromatosis UK Staff, York Health Economics Consortium Staff, and Laura Kelly. Evaluating the Cost of Illness of Genetic Haemochromatosis in the UK. Haemochromatosis UK, 2022.

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Carton, James. Hepatobiliary pathology. Oxford University Press, 2012. http://dx.doi.org/10.1093/med/9780199591633.003.0007.

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Acute viral hepatitis 116Chronic viral hepatitis 117Alcoholic liver disease 118Non-alcoholic fatty liver disease 119Autoimmune hepatitis 120Primary biliary cirrhosis 121Primary sclerosing cholangitis 122Wilson's disease 123Hereditary haemochromatosis 124Cirrhosis 125Benign liver lesions 126Hepatocellular carcinoma 127Intrahepatic cholangiocarcinoma ...
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Koch, Alan K. Essential Haemochromatosis Diet: The Complete Guide to Reduce Your Iron Intake and Cure Heart Problems. Independently Published, 2021.

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Keshav, Satish, and Palak Trivedi. Genetic liver disease. Edited by Patrick Davey and David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0214.

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This chapter discusses three of the major inherited forms of liver disease (all autosomal recessive): hereditary haemochromatosis, Wilson’s disease, and alpha-1-antitrypsin deficiency. Hereditary haemochromatosis is characterized by excessive absorption of dietary iron, with a pathological increase in total body iron that accumulates in tissues and organs, disrupting their function. Wilson’s disease (hepatolenticular degeneration) is an autosomal recessive genetic disorder in which copper accumulates in tissues. Alpha-1-antitrypsin deficiency is characterized by reduced circulating levels of alpha-1-antitrypsin, a liver-derived protease inhibitor, and accumulation within the hepatocytes of the abnormal, poorly degraded protein; the consequent excessive activity of proteases such as elastase in pulmonary alveoli, unopposed by protease inhibitors, leads to emphysema, and the accumulation of alpha-1-antitrypsin in hepatocytes causes liver dysfunction.
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Carton, James. Hepatobiliary pathology. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780198759584.003.0008.

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This chapter discusses hepatobiliary pathology and covers acute viral hepatitis, chronic viral hepatitis, alcoholic liver disease, non-alcoholic fatty liver disease, autoimmune hepatitis (AIH), primary biliary cholangitis (PBC), primary sclerosing cholangitis (PSC), Wilson’s disease, hereditary haemochromatosis, cirrhosis, benign liver lesions, hepatocellular carcinoma (liver cell cancer), intrahepatic cholangiocarcinoma, cholecystitis, and extrahepatic bile duct carcinoma.
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Drew, Charles S. Complete Haemochromatosis Diet Cookbook: Over 100 Delicious Recipes to Reduce Iron Absorption and Improve Your Well Being. Independently Published, 2021.

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Firth, Helen V., and Jane A. Hurst. Common consultations. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199557509.003.0003.

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This chapter presents some of the disorders more commonly seen in a genetics clinic from achondroplasia to autosomal dominant polycystic kidney disease, Alport syndrome, androgen insensitivity syndrome, Angelman syndrome, Beckwith–Wiedemann syndrome, congenital adrenal hyperplasia, glaucoma, haemochromatosis, hereditary spastic paraplegias, Leigh encephalopathy, Marfan’s syndrome, Noonan syndrome, and many others. It gives an explanation of the clinical approach, the history, the examination, the investigation, and the diagnosis and lists the support groups.
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Book chapters on the topic "Haemochromatosis"

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Mattiolo, Paola, Veronica Lever, Alessia Nottegar, and Claudio Luchini. "Haemochromatosis." In Encyclopedia of Pathology, 1–4. Cham: Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-28845-1_5510-1.

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Niederau, C., W. Stremmel, and G. Strohmeyer. "Haemochromatosis." In Ergebnisse der Inneren Medizin und Kinderheilkunde/Advances in Internal Medicine and Pediatrics, 117–48. Berlin, Heidelberg: Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-71052-0_4.

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Powell, L. W., K. M. Summers, and J. W. Halliday. "Haemochromatosis." In Hepatobiliary Diseases, 835–58. Berlin, Heidelberg: Springer Berlin Heidelberg, 1992. http://dx.doi.org/10.1007/978-3-642-76802-6_24.

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Mattiolo, Paola, Veronica Lever, Alessia Nottegar, and Claudio Luchini. "Haemochromatosis." In Pathology of the Pancreas, 87–89. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-62416-3_5510.

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Griffiths, William J. H. "Genetic Haemochromatosis." In In Clinical Practice, 131–46. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-43126-0_8.

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Dallos, Tomáš, Jochen Zwerina, and László Kovács. "Haemochromatosis Arthropathy." In Gerontorheumatology, 139–49. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-31169-2_14.

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Griffiths, William J. H. "Hereditary Haemochromatosis." In In Clinical Practice, 245–59. Cham: Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-031-10012-3_12.

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Worwood, M., M. T. Dorak, R. Raha-Chowdhury, and C. Darke. "Genetics of Haemochromatosis." In Advances in Experimental Medicine and Biology, 309–18. Boston, MA: Springer US, 1994. http://dx.doi.org/10.1007/978-1-4615-2554-7_33.

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Powell, Lawrie W., Elizabeth Jazwinska, and June Halliday. "Changing Concepts of Haemochromatosis." In Advances in Experimental Medicine and Biology, 285–91. Boston, MA: Springer US, 1994. http://dx.doi.org/10.1007/978-1-4615-2554-7_30.

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Wight, D. G. D. "Haemochromatosis and Iron Storage Disorders." In Atlas of Liver Pathology, 98–103. Dordrecht: Springer Netherlands, 1993. http://dx.doi.org/10.1007/978-94-011-2212-2_14.

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Conference papers on the topic "Haemochromatosis"

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Hinkson, Alex, Guy Gitlin-Leigh, and Joanna Moore. "P070 Liver stiffness measurement performs poorly in haemochromatosis." In Abstracts of the British Association for the Study of the Liver Annual Meeting, 22–24 November 2021. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2021. http://dx.doi.org/10.1136/gutjnl-2021-basl.79.

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Basu, A., S. Nedungadi, I. Dady, and A. Mahaveer. "G198(P) Neonatal haemochromatosis – clinical case presentation, diagnosis and response to treatment." In Royal College of Paediatrics and Child Health, Abstracts of the Annual Conference, 24–26 May 2017, ICC, Birmingham. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313087.195.

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Matthews, CF, and P. Gardiner. "AB0073 A case of fulminant lupus in a young man with hereditary haemochromatosis." In Annual European Congress of Rheumatology, Annals of the rheumatic diseases ARD July 2001. BMJ Publishing Group Ltd and European League Against Rheumatism, 2001. http://dx.doi.org/10.1136/annrheumdis-2001.118.

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Atkins, Janice L., Luke C. Pilling, and David Melzer. "OP56 Hereditary haemochromatosis: genetic iron overload – a missed opportunity for diagnosis and treatment." In Society for Social Medicine Annual Scientific Meeting Abstracts. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/jech-2022-ssmabstracts.55.

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Kitchin, Angus, Sophie Stretch, Amin Abdulgader, Katharine Hutchison, and Timothy Jobson. "PTH-39 Delayed diagnosis in Hereditary Haemochromatosis – potential utility of ‘case-finding’ approach." In Abstracts of the BSG Annual Meeting, 8–12 November 2021. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2021. http://dx.doi.org/10.1136/gutjnl-2021-bsg.354.

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Austin, Andrew, and Andrew Austin. "P321 Effects of cessation of venesection in older patients with haemochromatosis during COVID pandemic." In Abstracts of the BSG Annual Meeting, 20–23 June 2022. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2022. http://dx.doi.org/10.1136/gutjnl-2022-bsg.372.

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Traynor, BP, K. Hazel, J. O’Donnell, RJ Farrell, C. Smyth, and O. Kelly. "9 Imaging in hereditary haemochromatosis: establishing a local guideline for cardiac and hepatic surveillance." In Irish Cardiac Society Annual Scientific Meeting & AGM, Thursday October 4th – Saturday October 6th 2018, Galway Bay Hotel, Galway, Ireland. BMJ Publishing Group Ltd and British Cardiovascular Society, 2018. http://dx.doi.org/10.1136/heartjnl-2018-ics.9.

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Atkins, JL, LC Pilling, and D. Melzer. "OP37 Hereditary haemochromatosis: associations with morbidity and iron supplement use in 451,243 UK biobank participants." In Society for Social Medicine and Population Health and International Epidemiology Association European Congress Annual Scientific Meeting 2019, Hosted by the Society for Social Medicine & Population Health and International Epidemiology Association (IEA), School of Public Health, University College Cork, Cork, Ireland, 4–6 September 2019. BMJ Publishing Group Ltd, 2019. http://dx.doi.org/10.1136/jech-2019-ssmabstracts.37.

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Gallacher, Jennifer, Jill Clarkson, and Steven Masson. "ADTU-09 Recruitment and retention of blood donors among patients with haemochromatosis: 5 years of experience." In British Society of Gastroenterology, Annual General Meeting, 4–7 June 2018, Abstracts. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2018. http://dx.doi.org/10.1136/gutjnl-2018-bsgabstracts.450.

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Rassam, Thomas, Jill Clarkson, and Steven Masson. "P384 Does blood donation in genetic haemochromatosis match the demands of the uk blood transfusion services?" In Abstracts of the BSG Campus, 21–29 January 2021. BMJ Publishing Group Ltd and British Society of Gastroenterology, 2021. http://dx.doi.org/10.1136/gutjnl-2020-bsgcampus.458.

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