Patients with chronic hepatitis C frequently have serum and hepatic iron overload, but the mechanism is unknown. Recently identified hepcidin, exclusively synthesized in the liver, is thought to be a key regulator for iron homeostasis and is induced by infection and inflammation. This study was conducted to determine the hepatic hepcidin expression levels in patients with various liver diseases...

The inborn errors of heme biosynthesis, the porphyrias, are 8 genetically distinct metabolic disorders that can be classified as "acute hepatic," "hepatic cutaneous," and "erythropoietic cutaneous" diseases. Recent advances in understanding their pathogenesis and molecular genetic heterogeneity have led to improved diagnosis and treatment. These advances include DNA-based diagnoses for all the ...

Background—Haemochromatosis is a common genetic disease leading to iron overload. Although the gene had been identified (HFE), the pathogenesis had not been fully elucidated. The inadvertent transplant of a C282Y homozygous liver and intestine provided a unique opportunity to study this problem. Methods—A 19 year old man underwent orthotopic liver and intestinal transplantation in January 1997 ...

A woman over 70 years of age presented with anemia and appetite loss. She had no history of blood transfusions, although she had been receiving iron infusions for anemia for seven years. She had an elevated serum ferritin level (7,951 ng/mL) one month before admission. Abdominal computed tomography showed increased hepatic density and echocardiography showed normal heart valves and heart-wall m...

The liver, a major site of body iron stores, mediates key responses that preserve systemic iron homeostasis. In this issue of the JCI, Guo et al. demonstrate that administration of antisense oligonucleotides that reduce expression of Tmprss6, a hepatic protein that plays an essential role in maintaining iron balance, can attenuate disease severity in mouse models of human iron overload disorder...

iron chelating therapy is the only method available for preventing early death caused mainly by myocardial and hepatic iron toxicity. Although desferrioxamine (DFO) has been available for treating transfusional iron overload from the early 1960s, the era of modern and effective iron chelating therapy started only 20 years ago with the introduction of subcutaneous DFO infusions by portable pumps...

Hereditary hemochromatosis is commonly associated with liver fibrosis. Likewise, hepatic iron overload secondary to chronic liver diseases aggravates liver injury. To uncover underlying molecular mechanisms, hemochromatotic hemojuvelin knockout (Hjv-/-) mice and wild type (wt) controls were intoxicated with CCl(4). Hjv-/- mice developed earlier (by 2-4 weeks) and more acute liver damage, reflec...

Hepcidin is a regulatory hormone that plays a major role in controlling body iron homeostasis. Circulating factors (holotransferrin, cytokines, erythroid regulators) might variably contribute to hepcidin modulation in different pathological conditions. There are few studies analysing the relationship between hepcidin transcript and related protein expression profiles in humans. Our aims were: a...

BACKGROUND & AIMS The influence of HFE gene mutations and liver iron overload on hepatocellular carcinoma (HCC) occurrence in patients with cirrhosis is subjected to controversial results. The aim of this work was to clarify this influence in a large cohort of prospectively followed-up cirrhotic patients classified according to the cause of their liver disease. METHODS Three hundred one conse...

Increased hepatic iron load in extrahepatic organs of cirrhotic patients with and without hereditary hemochromatosis portends a poorer long term prognosis after liver transplant. Hepatic as well as nonhepatic iron overload is associated with increased infectious and postoperative complications, including cardiac dysfunction. In this case report, we describe a cirrhotic patient with alpha 1 anti...