Sökning: "hereditary hemochromatosis"

Hittade 5 avhandlingar innehållade orden hereditary hemochromatosis.

  1. 1. Hereditary hemochromatosis in central Sweden

    Författare :Bernd Ritter; Uppsala universitet; []
    Nyckelord :MEDICINE; MEDICIN;

    Sammanfattning : .... LÄS MER

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

    Författare :Maria Liljeholm; Anders Wahlin; Richard Rosenquist Brandell; Umeå universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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

  3. 3. 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. 4. Clinical and experimental studies on HFE and other genes involved in iron homeostasis

    Författare :Petra Holmström; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; Hereditary hemochromatosis; iron overload; HFE gene mutations; porphyria cutanea tarda; HFE gene; iron metabolism-related genes; iron homeostasis; liver; inflammation; and hepatocellular carcinoma;

    Sammanfattning : 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. LÄS MER

  5. 5. The transferrin polymorphism : population genetics and associations with reproductive hazards and disease

    Författare :Carin Sikström; Umeå universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : Human serum transferrin (TF) carries iron from the intestine, reticuloendothelial system and liver parenchymal cells to proliferating cells in the body. TF is highly polymorphic, and previous findings of associations between TF types and reproductive hazards in different species suggest that the TF polymorphism may be involved in natural selection and susceptibility to disease. LÄS MER