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Dissertations / Theses on the topic 'Iron overload'

Author: Grafiati

Published: 4 June 2021

Last updated: 25 July 2025

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1

Chua-anusorn, Wanida. "Iron oxide deposits in iron overload diseases." Thesis, Chua-anusorn, Wanida (1997) Iron oxide deposits in iron overload diseases. PhD thesis, Murdoch University, 1997. https://researchrepository.murdoch.edu.au/id/eprint/52151/.

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Iron overload diseases such as thalassaemia are a major public health problem in many parts of the world. Excess iron deposited in such tissues occurs in the form of ultrafine particles of iron oxyhydroxide. At low levels of iron loading, the iron(III) oxyhydroxide particles are mostly found in the iron storage protein, ferritin. At higher levels of loading, iron(III) oxyhydroxide particles are found in insoluble aggregates known as haemosiderin. Three different structures of these iron deposits are known: (i) ferrihydrite (5Fe203.9H20), (ii) poorly crystalline goethite (α-FeOOH), and (iii) no

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2

Baptista-Hon, Daniel Tomas. "Cellular substrates of iron overload cardiomyopathies." Thesis, University of Edinburgh, 2011. http://hdl.handle.net/1842/15878.

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Cardiomyopathies and arrhythmias are major causes of death in untreated hereditary haemochromatosis, acute iron poisoning and during secondary iron overload resulting from repeated blood transfusions in β-thalassaemia. Iron overload cardiomyopathies are associated with systolic and diastolic dysfunction, suggesting that Ca2+ homeostasis is impaired. However, the cellular mechanisms of these dysfunctions are unknown. The data presented in this thesis establishes for the first time iron effects on cardiomyocyte Ca2+ handling, as well as the potential cellular substrates responsible for this impa

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3

Sarmento, Carlos V. 1980. "Assessment of new iron chelating agents for treatment of iron-overload." Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=116063.

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Patients with acquired iron overload require chelation therapy using either Desferal or Exjade. Iron in excess may promote free radical formation in the Fenton reaction resulting in severe injuries of heart, liver and endocrine organs. Che1ators that bind ferric iron (Fe+3) in a 1:1 complex (Desferal) sequester it more efficiently than those che1ators that form 2:1 (Exjade) complexes. We initiated synthesis of new chelators derived from the tridentate chelator pyridoxal isonicotinoyl hydrazone (PIH) and its analogs. The aim of the synthesis was to generate chelators that bind iron in a 1:1 com

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4

Ward, Roberta J. "Tissue damage in iron overload and alcohol toxicity." Thesis, King's College London (University of London), 1990. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.304198.

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5

Mouralian, Cindy. "Evaluation of novel iron chelators for therapeutic use in secondary iron overload disorders." Thesis, McGill University, 2000. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=33071.

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Pyridoxal isonicotinoyl hydrazone (PIH) has been described as an orally effective Fe chelator. It is both membrane permeable and plasma soluble, and has a high affinity for Fe, making it an ideal model on which to base future chelators. Ten novel ligands have been synthesized based on these attributes. Characterization experiments were performed to determine the ligands' selectivity and binding affinity for iron, their lipophilicity as both free and Fe-ligand complexes, and their stoichiometric relationship with iron. Efficacy of the chelators has been determined through their ability to effec

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6

Baffour, Richard. "The development of iron exchange system for the treatment of chronic iron overload /." Thesis, McGill University, 1985. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=63195.

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7

Kilbarger, Amy K. "The effect of iron overload on osteoblast function in cell culture." Greensboro, N.C. : University of North Carolina at Greensboro, 2007. http://libres.uncg.edu/ir/listing.aspx?styp=ti&id=146.

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Thesis (M.S.)--University of North Carolina at Greensboro, 2007.<br>Title from PDF t.p. (viewed Feb. 29, 2008). Directed by Deborah Kipp; submitted to the School of Human Environmental Sciences. Embargoed until Dec. 20, 2008. Includes bibliographical references (p. 47-56).

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8

Hamilton, Jasmine La Juanie. "Innovative polymeric iron chelators with iron binding affinity and biocompatibility for the treatment of transfusional iron overload." Thesis, University of British Columbia, 2015. http://hdl.handle.net/2429/52624.

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Desferrioxamine (Desferal®, DFO), deferiprone (Ferriprox®, L1) and desferasirox (Exjade®, ICL-670) are clinically approved iron chelators used to treat transfusion associated iron overload, a common condition in patients with severe hemoglobin disorders like β-thalassemia, sickle-cell disease and the myelodysplastic syndromes. The poor pharmacokinetics and inefficacy of iron chelators necessitate administration of almost maximum tolerated doses to achieve adequate iron removal. This causes toxicity ranging from neurological dysfunction in DFO users, agranulocytosis and neutropenia in L1 users,

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9

Liu, Zu Dong. "Design of orally active iron(II) chelators." Thesis, King's College London (University of London), 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.266259.

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10

Stuart, Katherine Anne. "Iron overload in end-stage liver disease : mechanisms and pathophysiological significance /." [St. Lucia, Qld.], 2005. http://www.library.uq.edu.au/pdfserve.php?image=thesisabs/absthe18503.pdf.

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11

Shah, Farrukh Tasnim. "The relationship between non transferrin bound iron and iron overload in thalassaemia and sickle syndromes." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/1444078/.

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Iron overload is a major cause of morbidity and subsequent mortality in patients with thalassaemia major, its effects in thalassaemia intermedia and sickle cell anaemia are however less well known. The presence of non transferrin bound iron is well described in adult thalassaemia patients but it is unclear as to when NTBI appears and what relationship it has to ineffective erythropoiesis and end organ damage. Data is presented on children with thalassaemia from a five-year prospective study showing that NTBI is present early in thalassaemia syndromes and this is probably due to ineffective ery

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12

Cardoso, Elsa Maria Pereira. "Lymphocytes in the liver and hepatic iron toxicity : human and animal models of iron overload." Doctoral thesis, Porto : Edição do Autor, 2000. http://hdl.handle.net/10216/64561.

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13

Cardoso, Elsa Maria Pereira. "Lymphocytes in the liver and hepatic iron toxicity : human and animal models of iron overload." Tese, Porto : Edição do Autor, 2000. http://catalogo.up.pt/F?func=find-b&local_base=UPB01&find_code=SYS&request=000087509.

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14

NAOE, TOMOKI, HISAO HAYASHI, HIDEAKI MAEDA, HARUHIKO OHASHI, AKIHIRO TOMITA, and HIROSHI SAITO. "DETERMINATION OF FERRITIN AND HEMOSIDERIN IRON IN PATIENTS WITH NORMAL IRON STORES AND IRON OVERLOAD BY SERUM FERRITIN KINETICS." Nagoya University School of Medicine, 2012. http://hdl.handle.net/2237/16021.

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15

Saghaie, Dehkordi Lotfollah. "Design of orally active pyridinone iron(III)-selective ligands." Thesis, King's College London (University of London), 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.362581.

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16

Patch, Christine. "Comparison of two screening strategies for haemochromatosis : a pilot study investigating uptake and acceptability, feasibility and cost." Thesis, University of Southampton, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.289911.

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17

陈美翩 and Meipian Chen. "Effects of iron overload on apoptosis and titin proteolysis in cardiomyocytes." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hdl.handle.net/10722/193425.

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Iron is one of the essential elements involved in various fundamental biological activities. However, excess iron may bypass the negative feedback regulatory systems, leading to the formation of iron overload. The increase of iron deposition generates cellular toxicity and subsequently damages vital organs. Primary and secondary iron overload are affecting patients worldwide. Iron overload cardiomyopathy is the primary cause of cardiac dysfunction and cardiovascular mortality in β-thalassaemia major patients. Current effective therapy includes chelation treatment with conventional and new iron

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18

Al-Refaie, Faris Nouraldin. "Oral iron chelation therapy with deferiprone (L(207))." Thesis, University College London (University of London), 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.286321.

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19

Norin, Anneli. "Coordination Chemistry of Novel Drug Candidates for the Treatment of Iron Overload." Thesis, Mälardalen University, Department of Biology and Chemical Engineering, 2007. http://urn.kb.se/resolve?urn=urn:nbn:se:mdh:diva-227.

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<p>Iron overload is a serious clinical condition caused by excessive iron in the body, which can be largely prevented by the use of iron-specific chelating agents. At the moment there are only a few chelators in clinical use for the treatment of Fe overload. One of them, and so far the best working one, is desferrioxamine (DFO). This iron chelator has a major disadvantage of being orally inactive and is given by long and frequent subcutaneous infusions (12-24 hours/5-6 days/week) to patients. 1 Consequently, the design of an orally active, nontoxic, selective iron chelator has become a high pr

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20

Human, Veronique. "Molecular analysis of genes involved in iron overload implicated in oesophageal cancer." Thesis, Link to the online version, 2007. http://hdl.handle.net/10019/391.

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21

SAITO, HIROSHI. "METABOLISM OF IRON STORES." Nagoya University School of Medicine, 2014. http://hdl.handle.net/2237/20543.

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22

Crowe, Sarah Lynn. "Cardioprotective effects of dihydropyridine antagonists in a murine model of chronic iron-overload." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2002. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp05/MQ65615.pdf.

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23

SIGHINOLFI, SILVIA. "INTRACELLULAR IRON OVERLOAD AFFECTS HSC METABOLISM BY IMPAIRING MITOCHONDRIAL FITNESS IN β-THALASSEMIA". Doctoral thesis, Università Vita-Salute San Raffaele, 2023. https://hdl.handle.net/20.500.11768/137019.

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Mitochondrial activity and metabolism significantly control hematopoietic stem cell (HSC) function and fate. HSCs change the metabolic state in response to stress signals, such as reactive oxygen species (ROS), which drive HSC entry into cell cycle accompanied by increased mitochondrial oxidative phosphorylation (OXPHOS) and glycolysis. However, excessive accumulation of ROS results in oxidative damage of cellular organelles, including mitochondria. Iron is one of the sources of ROS and HSCs can uptake iron but little is known about the effects of iron on HSC metabolism. Recently, we demonstr

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24

Booley, Fadwah. "Analysis of genes implicated in iron regulation in individuals presenting with primary iron overload in the South African population." Thesis, Stellenbosch : University of Stellenbosch, 2007. http://hdl.handle.net/10019.1/2220.

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Thesis (MSc (Genetics))—University of Stellenbosch, 2007.<br>Hereditary haemochromatosis (HH), a common autosomal recessive disease, is characterized by increased iron absorption leading to progressive iron accumulation in organs such as the liver, heart and pancreas. In the South African population the disease is prevalent in individuals of Caucasian origin, with a carrier frequency of one in six for the C282Y mutation in the HFE gene. We investigated the role of genes implicated in iron metabolism, including the high-iron gene (HFE), haem oxgenase-1 gene (HMOX1), solute carrier family 40 (i

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25

Shirase, Tomoyuki. "Suppression of SLC11A2 expression is essential to maintain duodenal integrity during dietary iron overload." Kyoto University, 2012. http://hdl.handle.net/2433/152506.

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26

Lunova, Mariia [Verfasser]. "Hepcidin knockout mice as a model of iron-overload associated liver disease / Mariia Lunova." Ulm : Universität Ulm. Medizinische Fakultät, 2013. http://d-nb.info/1045278475/34.

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27

DEIDDA, Irene. "Retinal neurodegeneration and an innovative nanostructured approach in an iron overload in vivo model." Doctoral thesis, Università degli Studi di Palermo, 2020. http://hdl.handle.net/10447/426136.

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28

Chau, Thi Hien Trang. "Diagnosis and quantification of diffuse liver diseases by MRI : steatosis, iron overload and fibrosis." Electronic Thesis or Diss., Université de Rennes (2023-....), 2024. http://www.theses.fr/2024URENB064.

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Les hépatopathies diffuses représentent un problème de santé mondial majeur, avec des complications importantes, une morbidité et une mortalité élevées. Cette thèse se concentre sur la stéatose, la surcharge en fer hépatique et la fibrose hépatique. Pour ces pathologies, la quantification précise de la graisse hépatique, du fer et de la fibrose est cruciale pour le diagnostic, l'évaluation pronostique, la gestion du traitement et le suivi. Compte tenu des limites de la biopsie hépatique, des biomarqueurs non invasifs basés sur l'IRM tels que PDFF, R2* et la rigidité ont été rapidement développ

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29

Visapää, Ilona. "Molecular genetics of the GRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis and early death)." Helsinki : University of Helsinki, 2002. http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/visapaa/.

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30

Guo, Feng. "Correlations of in vitro and in vivo metabolism and pharmacokinetics of a new iron chelator, APOCP363, in the normal and iron-overload rat." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2001. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp04/NQ63749.pdf.

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31

Werner, Denise. "The Effect of Iron Overload on the Long-term Toxicological Effects of Fumonisin B1 in Rat Liver." Diss., lmu, 2002. http://nbn-resolving.de/urn:nbn:de:bvb:19-6138.

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32

Dee, Cathleen Michelle Ang, and 李明芳. "Sublethal iron overload can alter the morphology and function of dendritic cells which may predispose to gram-negative infection in beta-thalassemia." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/208548.

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33

Liljeholm, Maria. "Congenital Dyserythropoietic Anemia type III (CDA III) : diagnostics, genetics and morbidity." Doctoral thesis, Umeå universitet, Institutionen för strålningsvetenskaper, 2016. http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-117454.

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The Congenital Dyserythropoietic Anemias (CDA) are rare hereditary hemolytic disorders with large bi- to multi-nucleated erythroblasts in the bone marrow. Hemolysis is negative in a direct antiglobulin test (DAT). Based on morphology and clinical picture, three major forms of CDAs, type I, II, and III have been defined. CDA III, dominantly inherited, constitutes the rarest type with a majority of cases belonging to a family in Västerbotten, Sweden. The genetic background of CDA I and CDA II has been linked to mutations in CDAN1 and SEC23B respectively. The mutation of CDA III has been linked t

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34

Antofiichuk, T. M. "Intensity of liver parenchym fibrosis in patients with alcoholic steatohepatitis depending on the presence of dysmetabolic iron overload syndrome." Thesis, БДМУ, 2022. http://dspace.bsmu.edu.ua:8080/xmlui/handle/123456789/19604.

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35

MACCHI, CHIARA. "DEVELOPMENT AND PATHOPHYSIOLOGICAL CHARACTERIZATION OF AN IN VIVO MODEL OF IRON OVERLOAD ASSOCIATED TO INSULIN RESISTANCE AND REPRODUCTIVE IMPAIRMENT." Doctoral thesis, Università degli Studi di Milano, 2018. http://hdl.handle.net/2434/545620.

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Introduction. Iron is an essential micronutrient required for fundamental biochemical activities, such as oxygen and energy metabolism, mitochondrial function and brain development. However, it may catalyze the formation of highly reactive hydroxyl radicals, leading to oxidative stress, lipid peroxidation, and DNA damage with, finally, cell and tissue damages. Given its potential high toxicity, a condition of iron overload can promote multiple organ damages, associated to acute and chronic diseases. Among the several complications associated with iron overload syndromes, hypogonadism is the se

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36

Muraca, Sergio. "Hepatic iron quantitation and liver biopsy in sickle cell disease and thalassemia major, impact on monitoring and preventing the progression of iron overload due to regular transfusion therapy." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2001. http://www.collectionscanada.ca/obj/s4/f2/dsk3/ftp05/MQ63151.pdf.

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37

Bartfay, Wally J. "Increased free radical generation, as measured by aldehyde-derived peroxidation products, is observed in the heart with chronic iron-overload." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 2000. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape4/PQDD_0026/NQ49950.pdf.

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38

Panton, Nicola. "Mutation analysis of four genes implicated in iron homeostasis in porphyria cutanea tarda (PCT) patients." Thesis, Link to the online version, 2008. http://hdl.handle.net/10019/888.

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39

Pontre, Beau. "Measurement, modelling and potential clinical applications of spatial variations in magnetic resonance proton transverse relaxation rates in iron-loaded liver and heart tissue." University of Western Australia. School of Physics, 2006. http://theses.library.uwa.edu.au/adt-WU2006.0062.

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[Truncated abstract. Formulae and special characters in this field can only be approximated. See PDF version for accurate reproduction.] Magnetic resonance imaging (MRI) has been developed over the past two and a half decades to enable non-invasive assessment of soft tissues in the human body. MRI provides images of the tissues in the body with intensities weighted by nuclear magnetic relaxation properties of the tissue. Recent advances have utilised MRI as a quantitative tool with the nuclear magnetic relaxation rates in tissues being accurately quantified. One clinical application of quant

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40

Hangel, Christoph [Verfasser], and Markus [Akademischer Betreuer] Hecker. "Leptin-mediated downregulation of glutathione peroxidase 4 and iron overload contributing to podocyte ferroptosis in diabetic nephropathy / Christoph Hangel ; Betreuer: Markus Hecker." Heidelberg : Universitätsbibliothek Heidelberg, 2019. http://d-nb.info/1199196096/34.

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41

Olivatto, Gabriela Marsola. "Caracterização sociodemográfica e clínica de pacientes com talassemia maior e diabetes mellitus de um centro de referência no interior de São Paulo." Universidade de São Paulo, 2017. http://www.teses.usp.br/teses/disponiveis/22/22132/tde-28112017-150253/.

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A maior expectativa de vida dos pacientes com talassemia maior, as repetidas transfusões de concentrado de hemácias como parte do tratamento, podem ocasionar maior deposição de ferro nos órgãos, e consequentemente, as comorbidades. Dessa forma, dentre as comorbidades endócrinas, temos o diabetes mellitus como uma das principais, sendo necessário conhecer o panorama em nossa realidade. O estudo tem como objetivos determinar a prevalência do diagnóstico de diabetes em pacientes com talassemia maior, caracterizar e comparar os pacientes com talassemia maior, e diabetes mellitus, segundo as variáv

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42

Jereza, Noel Abique. "Investigations on potential digenic HAMP (hepcidin) and HFE haemochromatosis gene mutations in the development of iron overload in Irish patients with dilated cardiomyopathy." Thesis, University of the West of England, Bristol, 2016. http://eprints.uwe.ac.uk/25518/.

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Iron overload cardiomyopathy (IOC) has been recently described as a dilated cardiomyopathy, characterized by left ventricular (LV) remodelling with chamber dilatation and reduced LV ejection fraction (LVEF). However, primary haemochromatosis, a genetically determined condition leading to iron overload, is classically categorized as an infiltrative cause of cardiomyopathy. Moreover, secondary haemochromatosis may lead to severe diastolic LV dysfunction in the early stages of the disease, before LVEF is affected. In this study, we describe the forms, pathophysiology, and genotypic expressions of

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43

Steffani, L. "MODELLI SPERIMENTALI DI SOVRACCARICO DIETETICO DI FERRO: EFFETTI CENTRALI E PERIFERICI SU METABOLISMO E FUNZIONE RIPRODUTTIVA." Doctoral thesis, Università degli Studi di Milano, 2014. http://hdl.handle.net/2434/232404.

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Background and Aim. Iron is an essential micronutrient, which is involved as a cofactor in fundamental biochemical activities, and it is necessary for proper brain development in the fetal and early neonatal period. However, cellular iron overload produces toxic build-up in many organs, including brain, and, under aerobic conditions, catalyses the propagation of reactive oxygen species and the generation of highly reactive radicals through Fenton Chemistry. Association between metabolic and reproductive impairment has been proved in patients affected by dysmetabolic iron overload syndrome (DIO

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44

Silva, Ana Lúcia Bernardes da. "O papel das mutações do gene HFE e da sobrecarga de ferro na evolução da hepatite crônica pelo VHC." Universidade de São Paulo, 2009. http://www.teses.usp.br/teses/disponiveis/5/5147/tde-08122009-181724/.

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Introdução: A infecção pelo VHC é uma epidemia de proporções globais, que se torna crônica em cerca de 85% dos indivíduos. Sobrecarga de ferro secundária a mutações HFE vem sendo proposta como fator agravante na evolução da hepatite crônica C. Objetivos: Avaliar se sobrecarga de ferro, mutações no gene HFE estão associadas a progressão da fibrose hepática e a carcinoma hepatocelular (CHC) em portadores crônicos VHC. Casuística e Métodos: De um banco de 2300 pacientes matriculados nos Ambulatórios de Hepatologia e de Transplante Hepático do HCFMUSP, selecionaram-se 320 portadores de hepatite cr

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Veronese, Elisa. "Methods for segmentation and characterization of multiple sclerosis cortical lesions from MRI data." Doctoral thesis, Università degli studi di Padova, 2012. http://hdl.handle.net/11577/3422439.

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This thesis deals with the automatic analysis of magnetic resonance images of the brain, acquired from people affected by multiple sclerosis. In particular, the primary aim of the analysis is to obtain a quantitative measure of the cortical lesion burden due to the specific disease. Besides, we propose a technique for the characterization of the different lesion types, based on their inflammatory activity. Multiple sclerosis is a chronic, inflammatory disease of the central nervous system, that causes a progressive demyelination of several areas of the brain and of the spinal cord. As far as

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46

Cocato, Maria Lucia. "Sobrecarga moderada de ferro em ratos: interação com frutanos e/ou fitato no metabolismo hepático e ósseo." Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/9/9132/tde-10112016-153854/.

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O excesso de Fe no organismo gera espécies reativas de oxigênio (ERO) que são potencialmente tóxicas. Entretanto, a magnitude dos efeitos da exposição à moderada sobrecarga de Fe e da sua interação com facilitadores e/ou inibidores da absorção mineral não é conhecida. O objetivo deste trabalho foi avaliar esses efeitos e a sua interação com fruta nos e/ou fitato (facilitadores e inibidores da absorção de Fe, respectivamente) nos índices séricos do estado nutricional em Fe, no perfil dos lipídeos séricos e em parâmetros do metabolismo hepático e ósseo. Para o experimento foram utilizados 34 rat

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47

Jatob?, Carlos Andr? Nunes. "Avalia??o bioqu?mica e hostol?gica de f?gado de ratas wistar diab?ticas e tratadas com tamoxifeno." Universidade Federal do Rio Grande do Norte, 2007. http://repositorio.ufrn.br:8080/jspui/handle/123456789/13111.

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Made available in DSpace on 2014-12-17T14:13:20Z (GMT). No. of bitstreams: 1 CarlosANJ.pdf: 292862 bytes, checksum: 36f729a3d08d7c1e5c99393f43d9acef (MD5) Previous issue date: 2007-10-19<br>Tamoxifen (TX), a drug used in the treatment of breast cancer, may cause hepatic changes in some patients. The consequences of its use on the liver tissues of rats with or without diabetes mellitus (DM) have not been fully explored. The purpose of this multidisciplinary study was to evaluate the correlation between plasma hepatic enzyme levels and the presence of iron overload in the hepatic tissue of fem

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48

Holt, Randall William. "MRI susceptometry: Theory and robustness of an external phantom method for measuring bulk susceptibility from MRI field echo phase reconstruction maps applied to human liver iron overload." Case Western Reserve University School of Graduate Studies / OhioLINK, 1993. http://rave.ohiolink.edu/etdc/view?acc_num=case1057155289.

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49

Evangelista, Andréia Silva. "Caracterização fenotípica e genotipagem HFE em portadores de doença hepática crônica com sobrecarga de ferro." Universidade de São Paulo, 2013. http://www.teses.usp.br/teses/disponiveis/5/5168/tde-01082013-134115/.

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A doença hepática associada a sobrecarga de ferro pode ocorrer devido a causas genéticas ou secundárias. Esse estudo avaliou pacientes com hepatopatia crônica com sobrecarga de ferro submetidos à pesquisa das mutações HFE no período de 2007-2009 e classificou como portadores de hemocromatose hereditária HFE (HH-HFE) aqueles que apresentavam as mutações C282Y/C282Y ou C282Y/H63D e como sobrecarga de ferro não HFE aqueles que apresentavam outras mutações no gene HFE como C282Y/-, H63D/- e H63D/H63D ou pacientes sem qualquer uma dessas mutações mencionadas. Os objetivos do estudo foram 1) analisa

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Andrade, Lara Filipe Rocha. "Hereditary hemochromatosis: cellular response to oxidative stress." Master's thesis, Universidade de Aveiro, 2013. http://hdl.handle.net/10773/12495.

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Abstract:

Mestrado em Bioquímica - Bioquímica Clínica<br>Iron is a key element for basic cellular functions. If iron homeostasis is not maintained it may lead to iron overload. Patients with Hereditary Hemochromatosis (HH) and with the C282Y HFE mutation have a progressive severe iron overload that, if it is not treated, may lead to tissue damage, that mostly culminate in hepatic cirrhosis and carcinoma. Having in mind that tissue damage in HH may be related with oxidative stress (OS) caused by iron toxicity, it is important to understand in what way the OS defense is acting in cells from HH patients wi

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