Sökning: "hereditary hemochromatosis"
Hittade 5 avhandlingar innehållade orden hereditary hemochromatosis.
Sammanfattning : .... LÄS MER
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. Alpha-1-antitrypsin deficiency (PiZ): Clinical studies with special regard to hepatic and vasculitic disorders
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
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. The transferrin polymorphism : population genetics and associations with reproductive hazards and disease
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