Search for dissertations about: "HFE gene"
Showing result 1 - 5 of 9 swedish dissertations containing the words HFE gene.
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1. Clinical and experimental studies on HFE and other genes involved in iron homeostasis
Abstract : In this thesis, the clinical significance of HFE mutations was further investigated, and the molecular mechanisms underlying the disturbed iron homeostasis during hemochromatosis, inflammation and hepatocellular carcinoma were studied in experimental models. Hereditary hemochromatosis (HH) is a prevalent autosomal recessive iron overload disorder caused by increased intestinal absorption and deposition of iron in vital organs, leading to organ damage. READ MORE
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2. Oxidants and antioxidants in cardiovascular disease
Abstract : Background Cardiovascular diseases, including myocardial infarction and stroke, are the main reason of death in Sweden and Western Europe. High iron stores are believed to produce oxygen radicals, which is the presumed putative mechanism behind lipid peroxidation, atherosclerosis and subsequent cardiovascular disease. READ MORE
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3. Studies of proteins in heme and iron metabolism
Abstract : One aim of the study was to investigate the regulation of the murine erythroid isoform of aminolevulinate synthase (eALAS) protein involved in heme synthesis. Another aim was to characterize the structure of the rat hemochromatosis gene (HFE) gene and its expression in conjunction with other genes involved in the regulation of iron homeostasis during inflammation and iron overload in the rat liver. READ MORE
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4. Congenital Dyserythropoietic Anemia type III (CDA III) : diagnostics, genetics and morbidity
Abstract : 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. READ MORE
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5. Importance of iron overload and steatosis in patients with chronic liver disease
Abstract : This thesis deals with the importance of hepatic iron and fat deposition in the context of chronicliver disease, with special focus on the role of the S65C mutation in the hemochromatosis cryptogenic cirrhosis (CC) in patients evaluated for liver transplantation, the expressions of innate and adaptive immunity in non-alcoholic steatohepatitis (NASH), and the role of the ironregulatory hormone hepcidin in dysmetabolic iron overload (DIO). NAFLD is the most common liver disease in the Western world. READ MORE