Search for dissertations about: "Genetic Hemochromatosis"
Found 4 swedish dissertations containing the words Genetic Hemochromatosis.
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1. Studies on genetic hemochromatosis and the hepatotoxicity of iron
Abstract : The aim of this study was to investigate the mutations and clinical expression of genetic hemochromatosis in patients and mechanisms involved in the hepatotoxicity of iron in animal and cell- culture models. In Swedish patients with a clinical diagnosis of genetic hemochromatosis, the C282Y mutation of the HFE gene was present in 94. READ MORE
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2. Alpha-1-antitrypsin deficiency (PiZ): Clinical studies with special regard to hepatic and vasculitic disorders
Abstract : Homozygous alpha-1-antitrypsin (AAT)deficiency (PiZZ) is known to predispose to emphysema and chronic liver disease (CLD). The overall aim of the studies upon which this thesis is based was to investigate extra-pulmonary disease manifestations of AAT deficiency with special reference to hepatic and vasculitic disorders. READ MORE
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3. 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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4. Mortality and co-morbidity among patients with hemochromatosis and their first-degree relatives
Abstract : Genetic hemochromatosis (GH) is an autosomal recessive disease caused by a C282Y mutation in the HFEgene, and is characterized by excess iron accumulation in multiple organs. Classical manifestations of GH include liver cirrhosis, liver cancer, diabetes mellitus, cardiomyopathy, and arthritis. READ MORE