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Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload.
Lancet. 2002 Mar 02; 359(9308):786-90.Lct

Abstract

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 over absorption of dietary iron, and patterns of tissue iron deposition in agreement with clinical observations of hereditary haemochromatosis.

Authors+Show Affiliations

Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford University, Oxford OX3 9DS, UK. townsend@pinnacle.jr2.ox.ac.ukNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11888608

Citation

Townsend, Alain, and Hal Drakesmith. "Role of HFE in Iron Metabolism, Hereditary Haemochromatosis, Anaemia of Chronic Disease, and Secondary Iron Overload." Lancet (London, England), vol. 359, no. 9308, 2002, pp. 786-90.
Townsend A, Drakesmith H. Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload. Lancet. 2002;359(9308):786-90.
Townsend, A., & Drakesmith, H. (2002). Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload. Lancet (London, England), 359(9308), 786-90.
Townsend A, Drakesmith H. Role of HFE in Iron Metabolism, Hereditary Haemochromatosis, Anaemia of Chronic Disease, and Secondary Iron Overload. Lancet. 2002 Mar 2;359(9308):786-90. PubMed PMID: 11888608.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Role of HFE in iron metabolism, hereditary haemochromatosis, anaemia of chronic disease, and secondary iron overload. AU - Townsend,Alain, AU - Drakesmith,Hal, PY - 2002/3/13/pubmed PY - 2002/3/29/medline PY - 2002/3/13/entrez SP - 786 EP - 90 JF - Lancet (London, England) JO - Lancet VL - 359 IS - 9308 N2 - 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 over absorption of dietary iron, and patterns of tissue iron deposition in agreement with clinical observations of hereditary haemochromatosis. SN - 0140-6736 UR - https://www.unboundmedicine.com/medline/citation/11888608/Role_of_HFE_in_iron_metabolism_hereditary_haemochromatosis_anaemia_of_chronic_disease_and_secondary_iron_overload_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0140-6736(02)07885-6 DB - PRIME DP - Unbound Medicine ER -