Sökning: "Genetic Hemochromatosis"

Hittade 4 avhandlingar innehållade orden Genetic Hemochromatosis.

  1. 1. Studies on genetic hemochromatosis and the hepatotoxicity of iron

    Författare :Karin Hagen; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : 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. LÄS MER

  3. 2. Alpha-1-antitrypsin deficiency (PiZ): Clinical studies with special regard to hepatic and vasculitic disorders

    Författare :Abdul-Nasser Elzouki; Malmö Institutionen för kliniska vetenskaper; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gastro-enterology; systemic vasculitis; small-vessel vasculitis; serpins; genetic hemochromatosis; chronic hepatitis C; chronic liver disease; Alpha-1-antitrypsin deficiency; alpha-1-antichymotrypsin deficiency; Gastroenterologi; Urology; nephrology; Urologi; nefrologi;

    Sammanfattning : 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. LÄS MER

  4. 3. Congenital Dyserythropoietic Anemia type III (CDA III) : diagnostics, genetics and morbidity

    Författare :Maria Liljeholm; Anders Wahlin; Richard Rosenquist Brandell; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; congenital dyserythropoietic anemia; KIF23; hereditary hemochromatosis; iron overload; flow cytometry;

    Sammanfattning : 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. LÄS MER

  5. 4. Mortality and co-morbidity among patients with hemochromatosis and their first-degree relatives

    Författare :Maria Elmberg; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Genetic Hemochromatosis; cohort study; health- and census registers; mortality; morbidity; cancer; ischemic heart disese; arthropathy; joint replacement surgery;

    Sammanfattning : 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. LÄS MER