What’s new in hemochromatosis

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Current opinion in hematology

• Publication date

  2001-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1097/00062752-200103000-00007PMID 11224684
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• CLINICAL OBSERVATIONS, INTERVENTIONS, AND THERAPEUTIC TRIALS HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis

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• Automated measurement of unsaturated iron binding capacity

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• Automated measurement of unsaturated iron binding capacity is an effective screening strategy for C282Y homozygous haemochromatosis

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• Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse

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• The hemochromatosis protein HFE competes with transferrin for binding to the transferrin receptor.

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• Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.

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• Molecular medicine and hemochromatosis: at the crossroads.

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• HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors.

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• Juvenile hemochromatosis locus maps to chromosome 1q.

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• A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations

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• Iron and the genetics of cardiovascular disease.

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• Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

  1999cited by this paper
• A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote.

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• Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation : a prospective cohort study in men in eastern Finland.

  1999cited by this paper
• Elevated serum type IV collagen: a sensitive indicator of the presence of cirrhosis in haemochromatosis.

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• A population-based study of the clinical expression of the hemochromatosis gene.

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• Heterozygosity for a hereditary hemochromatosis gene is associated with cardiovascular death in women.

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• Is there a link between African iron overload and the described mutations of the hereditary haemochromatosis gene?

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• Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis.

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• The significance of haemochromatosis gene mutations in the general population: implications for screening.

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• Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis?

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• Automated measurement of unsaturated iron binding capacity allows a cost effective, ongoing strategy for screening for haemochromatosis

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• Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport.

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• Relation of HFE gene mutations, high iron stores and early onset coronary artery disease.

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• Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor.

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• The significance of haemochromatosis gene mutations in the general population: implications for screening

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• The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding.

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• Increased liver iron stores in patients with hepatocellular carcinoma developed on a noncirrhotic liver

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• Antioxidant status and lipid peroxidation in hereditary haemochromatosis.

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• Preneoplastic significance of hepatic iron–free foci in genetic hemochromatosis: A study of 185 patients

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• Causes of iron overload.

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• Neonatal hemochromatosis.

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• Iron overload in Africa. Interaction between a gene and dietary iron content.

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• Familial iron overload with possible autosomal dominant inheritance.

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• Iron and the liver: genetic hemochromatosis and other hepatic iron overload disorders.

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• Coordinate post-transcriptional regulation of ferritin and transferrin receptor expression: the role of regulated RNA-protein interaction.

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• Lipid peroxidation and associated hepatic organelle dysfunction in iron overload.

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• Dietary iron overload persists in rural sub-Saharan Africa.

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• Hemochromatosis and Other Iron Storage Disorders

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• Siderosis in the Bantu

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• Hepatic pathology in relatives of patients with haemochromatosis.

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• Siderosis in the Bantu: [ii] The Relationship between Iron Overload and Cirrhosis.

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• [Generalized hyperpigmentation and malignant acanthosis nigricans. A case of a patient with hereditary hemochromatosis and gastric cancer].

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• evisiting Hereditary Hemochromatosis : Current Concepts nd Progress

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