Sökning: "HFE gene mutations"

Hittade 5 avhandlingar innehållade orden HFE gene mutations.

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

   Författare :Petra Holmström; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :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

3. 2. 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

4. 3. Viral and host determinants in hepatitis B

   Författare :Hossein Sendi; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : The outcome of hepatitis B infection is highly variable, ranging from acute disease resulting in the elimination of infection to persistent infection that can lead to cirrhosis or hepatocellular carcinoma. The factors determining the outcome in an individual are not fully known but may be classified into viral and host factors. LÄS MER

5. 4. Importance of iron overload and steatosis in patients with chronic liver disease

   Författare :Joel Marmur; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : 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. LÄS MER

7. 5. 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