| Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene. | |
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MedLine Citation:
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PMID: 15198949 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Juvenile hereditary hemochromatosis is a genetically heterogeneous disorder transmitted as an autosomal recessive trait. It is most often caused by mutations in the HJV gene and rarely in the HAMP gene. Hepcidin is considered to constitute a negative regulator of iron absorption, and its production is increased in inflammatory states and iron overload. We report the detection of a new mutation in the HAMP gene leading to juvenile hemochromatosis in 2 members of a Portuguese family. The mutation lies in the 5'-UTR (untranslated region) of the gene and creates a new initiation codon in the context of a Kozak sequence. We found no trace of hepcidin protein in the patients' urine, suggesting that ribosomes select the mutant initiation codon for translation. The decrease of hepcidin production would thus lead to increased iron absorption, resulting in iron deposition in parenchymal tissues. Phlebotomy therapy of the 2 patients resulted in impressive clinical improvement. |
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Authors:
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Thomas Matthes; Patricia Aguilar-Martinez; Loredana Pizzi-Bosman; Régis Darbellay; Laura Rubbia-Brandt; Emilio Giostra; Martine Michel; Tomas Ganz; Photis Beris |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2004-06-15 |
Journal Detail:
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Title: Blood Volume: 104 ISSN: 0006-4971 ISO Abbreviation: Blood Publication Date: 2004 Oct |
Date Detail:
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Created Date: 2004-09-20 Completed Date: 2004-11-04 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7603509 Medline TA: Blood Country: United States |
Other Details:
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Languages: eng Pagination: 2181-3 Citation Subset: AIM; IM |
Affiliation:
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Division of Hematology, University Hospital, Geneva, Switzerland. thomas.matthes@hcuge.ch |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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5' Untranslated Regions* Adult Antimicrobial Cationic Peptides / genetics*, metabolism, physiology Base Sequence Blotting, Western Codon DNA / chemistry DNA, Complementary / metabolism Family Health Female Hemochromatosis / ethnology, genetics* Humans Inflammation Iron / chemistry, metabolism Iron Overload Male Membrane Proteins / genetics Molecular Sequence Data Mutation* Phenotype Portugal Protein Biosynthesis RNA / chemistry Time Factors |
| Chemical | |
Reg. No./Substance:
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0/5' Untranslated Regions; 0/Antimicrobial Cationic Peptides; 0/Codon; 0/DNA, Complementary; 0/HFE2 protein, human; 0/Membrane Proteins; 0/hepcidin; 63231-63-0/RNA; 7439-89-6/Iron; 9007-49-2/DNA |
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