Autoimmune hepatitis (AIH) is an inflammatory condition of the liver that has a multitude of clinical presentations from chronic hepatitis to acute fulminant hepatitis. AIH diagnosis is typically suspected after ruling out other causes of hepatitis (such as vial hepatitis, hemochromatosis, Wilson's disease, and primary biliary cirrhosis) through serological tests and by findings of high titers ...

Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed the definition of the coexistence of the 2 dise...

BACKGROUND Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA). METHODS We identified three Swedish FRDA patients with an FXN p.R165P missense mutation and compared their clinical features with six homozygote trinucleotide repeat expansion carriers. Patients were assessed clinically. Trinucleotide expans...

Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK: A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 13:399, 1996 3. Jazwinska EC, Cullen LM, Busfield F, Puper WR, Webbe SI, Powell LW, Morris CP, Walsh TP: Hemochromatosis and HLA-H. Nat Genet 14:249, 1996 4. Jouanolle AM, Gandon G, Jezequel P, Blayau M, Campion ML, Yaouanq J, Mosser J, Fergelot P, ...

To determine whether release of tumor necrosis factor-a (TNF-a), a cytokine that affects iron homeostasis, may be selectively altered in hereditary hemochromatosis, we measured concentrations of TNF-a and interleukin-ls (IL-ls) in supernatants of cultured peripheral blood monocytes from 11 homozygotes for hereditary hemochromatosis, 11 healthy individuals, and five patients with iron-loading an...

Hereditary hemochromatosis (HH) is a highly prevalent genetic disorder characterized by excessive parenchymal iron accumulation leading to liver cirrhosis, diabetes, and in some cases hepatocellular carcinoma. HH is caused by mutations in the genes encoding upstream regulators of hepcidin or more rarely in the hepcidin gene itself. A deficit in hepcidin results in intestinal iron hyperabsorptio...

Hemochromatosis is an autosomal recessive genetic disorder resulting in increased intestinal absorption of iron and eventually to iron overload. The onset of symptoms is usually seen around 40 years of age. Iron overload causes tissue damage in liver, pancreas, skin, joints, heart, and gonads. Approximately 50% of patients diagnosed with hemochromatosis will have either type 1 or type 2 diabete...

Introduction. Between 20 - 60% of patients with chronic hepatitis C present elevated serum ferritin and iron, as well increased transferrin saturation, yet without a significant liver iron burden. The objective this article was to summarize current knowledge on interactions between virus infection metabolism. Case Report. A 34-year-old female patient positive for genotype 3, underwent therapy p...

Hereditary hemochromatosis is definitively diagnosed based on liver biopsy findings.