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Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload

Hereditary haemochromatosis is an iron overloading disorder caused by common mutations in the HFE gene. However, information with respect to the function of HFE protein does not explain how mutations in HFE lead to hereditary haemochromatosis. We propose a molecular model in which HFE has two mutual... Full description

Journal Title: The Lancet (British edition) 2002-03-02, Vol.359 (9308), p.786-790
Main Author: Townsend, Alain
Other Authors: Drakesmith, Hal
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: London: Elsevier Ltd
ID: ISSN: 0140-6736
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recordid: cdi_proquest_miscellaneous_71510776
title: Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload
format: Article
creator:
  • Townsend, Alain
  • Drakesmith, Hal
subjects:
  • Abridged Index Medicus
  • Analysis
  • Anemia
  • Anemia - blood
  • Anemia - genetics
  • Animals
  • Biological and medical sciences
  • Chronic diseases
  • Chronic illnesses
  • Development and progression
  • Diet
  • Disease
  • Disease Models, Animal
  • Gene mutations
  • Genetic aspects
  • Genetics
  • Hemochromatosis
  • Hemochromatosis - blood
  • Hemochromatosis - genetics
  • Hemochromatosis Protein
  • HFE protein
  • Histocompatibility Antigens Class I - genetics
  • HLA Antigens - genetics
  • Humans
  • Hypotheses
  • Inflammation
  • Inhibition
  • Intestinal Absorption - genetics
  • Intestine
  • Investigative techniques, diagnostic techniques (general aspects)
  • Iron
  • Iron - blood
  • Iron Overload - blood
  • Iron Overload - genetics
  • Medical sciences
  • Membrane Proteins
  • Metabolic diseases
  • Metabolism
  • Models, Molecular
  • Molecular chains
  • Mutation
  • Mutation - genetics
  • Overloading
  • Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques
  • Physiological aspects
  • Proteins
  • Receptors, Transferrin - blood
  • Reticuloendothelial system
  • Rodents
  • Transferrin
  • Transferrin - metabolism
  • Transgenic animals
ispartof: The Lancet (British edition), 2002-03-02, Vol.359 (9308), p.786-790
description: Hereditary haemochromatosis is an iron overloading disorder caused by common mutations in the HFE gene. However, information with respect to the function of HFE protein does not explain how mutations in HFE lead to hereditary haemochromatosis. We propose a molecular model in which HFE has two mutually exclusive activities in cells: inhibition of uptake or inhibition of release of iron. The balance between serum transferrin saturation and serum transferrin-receptor concentrations determines which of these functions predominates. With this input, HFE enables the intestinal crypt cells and reticuloendothelial system to interpret the body's iron requirements and regulate iron absorption and distribution. In our model, mutations in HFE result in overabsorption of dietary iron, and patterns of tissue iron deposition in agreement with clinical observations of hereditary haemochromatosis.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0140-6736
fulltext: fulltext
issn:
  • 0140-6736
  • 1474-547X
url: Link


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descriptionHereditary haemochromatosis is an iron overloading disorder caused by common mutations in the HFE gene. However, information with respect to the function of HFE protein does not explain how mutations in HFE lead to hereditary haemochromatosis. We propose a molecular model in which HFE has two mutually exclusive activities in cells: inhibition of uptake or inhibition of release of iron. The balance between serum transferrin saturation and serum transferrin-receptor concentrations determines which of these functions predominates. With this input, HFE enables the intestinal crypt cells and reticuloendothelial system to interpret the body's iron requirements and regulate iron absorption and distribution. In our model, mutations in HFE result in overabsorption of dietary iron, and patterns of tissue iron deposition in agreement with clinical observations of hereditary haemochromatosis.
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publisherLondon: Elsevier Ltd
subjectAbridged Index Medicus ; Analysis ; Anemia ; Anemia - blood ; Anemia - genetics ; Animals ; Biological and medical sciences ; Chronic diseases ; Chronic illnesses ; Development and progression ; Diet ; Disease ; Disease Models, Animal ; Gene mutations ; Genetic aspects ; Genetics ; Hemochromatosis ; Hemochromatosis - blood ; Hemochromatosis - genetics ; Hemochromatosis Protein ; HFE protein ; Histocompatibility Antigens Class I - genetics ; HLA Antigens - genetics ; Humans ; Hypotheses ; Inflammation ; Inhibition ; Intestinal Absorption - genetics ; Intestine ; Investigative techniques, diagnostic techniques (general aspects) ; Iron ; Iron - blood ; Iron Overload - blood ; Iron Overload - genetics ; Medical sciences ; Membrane Proteins ; Metabolic diseases ; Metabolism ; Models, Molecular ; Molecular chains ; Mutation ; Mutation - genetics ; Overloading ; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques ; Physiological aspects ; Proteins ; Receptors, Transferrin - blood ; Reticuloendothelial system ; Rodents ; Transferrin ; Transferrin - metabolism ; Transgenic animals
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abstractHereditary haemochromatosis is an iron overloading disorder caused by common mutations in the HFE gene. However, information with respect to the function of HFE protein does not explain how mutations in HFE lead to hereditary haemochromatosis. We propose a molecular model in which HFE has two mutually exclusive activities in cells: inhibition of uptake or inhibition of release of iron. The balance between serum transferrin saturation and serum transferrin-receptor concentrations determines which of these functions predominates. With this input, HFE enables the intestinal crypt cells and reticuloendothelial system to interpret the body's iron requirements and regulate iron absorption and distribution. In our model, mutations in HFE result in overabsorption of dietary iron, and patterns of tissue iron deposition in agreement with clinical observations of hereditary haemochromatosis.
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pmid11888608
doi10.1016/S0140-6736(02)07885-6