Hemojuvelin (Hjv) is a membrane protein that controls body iron metabolism by enhancing signaling to hepcidin. Hjv mutations cause juvenile hemochromatosis, a disease of systemic iron overload. Excessive iron accumulation in the liver progressively leads to inflammation and disease, such as fibrosis, cirrhosis, or hepatocellular cancer. Fatty liver (steatosis) may also progress to inflammation ...

Objective: To determine if chemical shift imaging is comparable to single-echo T2*-weighted imaging in the quantification of hepatic iron, and if coexisting steatosis affects its performance. Design: Retrospective analysis. Participants/Methods: This study was comprised of 63 patients (50 men and 13 women) who had undergone MRI of the liver and concomitant histopathologic analysis within 90 day...

BACKGROUND AND AIMS The role of the HFE S65C mutation in the development of hepatic iron overload is unknown. The aim of the present study was: (A) to determine the HFE S65C frequency in a Northern European population; and (B) to evaluate whether the presence of the HFE S65C mutation would result in a significant hepatic iron overload. PATIENTS AND METHODS Biochemical iron parameters and HFE ...

UNLABELLED Defects in human hemochromatosis protein (HFE) cause iron overload due to reduced hepatic hepcidin secretion. Liver transplantation (LT) is a key treatment for potential complications from HFE-related hereditary hemochromatosis (HH). This study evaluated hepcidin secretion and iron burden after LT to elucidate HH pathophysiology. Patients (n=18) homozygous for the p.Cys282Tyr mutatio...

Background and aims: The role of the HFE S65C mutation in the development of hepatic iron overload is unknown. The aim of the present study was: (A) to determine the HFE S65C frequency in a Northern European population; and (B) to evaluate whether the presence of the HFE S65C mutation would result in a significant hepatic iron overload. Patients and methods: Biochemical iron parameters and HFE ...

BACKGROUND Iron overload is the main transfusion related side effects in patients with transfusion dependent hemoglobinopathies. Severe iron deposition in tissues leads to organ dysfunction. Many organs can be affected such as heart, liver, and endocrine organs. Cardiac failure and liver fibrosis are the consequent of Iron overload in transfusion dependent hemoglobinopathy. Magnetic Resonance I...

Experimental data suggest the antimicrobial peptide hepcidin as a central regulator in iron homeostasis. In this study, we characterized the expression of human hepcidin in experimental and clinical iron overload conditions, including hereditary hemochromatosis. Using quantitative reverse transcriptase-polymerase chain reaction (RT-PCR), we determined expression of hepcidin and the most relevan...

Zip14 is a member of the SLC39A zinc transporter family, which is involved in zinc uptake by cells. Up-regulation of Zip14 by IL-6 appears to contribute to the hepatic zinc accumulation and hypozincemia of inflammation. At least three members of the SLC39A family transport other trace elements, such as iron and manganese, in addition to zinc. We analyzed the capability of Zip14 to mediate non-t...

Except for recent studies concerned with the release of iron from hepatic ferritin (1, 2), little experimental evidence is available bearing on the identity of the biochemical mechanisms involved in the transport of iron in the animal organism. Nishida and Labbe (3, 4) have demonstrated the presence of an enzyme in liver which is required for the incorporation of iron into heme, and Jandl et al...

Porphyria cutanea tarda (symptomatica) (PCT) is an acquired hepatic porphyria, usually caused, in susceptible people, by liver damage from a high ethanol intake. Clinically, patients have skin fragility, hypertrichosis, photosensitivity and hyperpigmentation, and biochemically there is a high urinary excretion of uroporphyrin, hepatic siderosis, abnormal iron metabolism (Turnbull, Baker, Vernon...