| Natural history of recessive inheritance of DMT1 mutations. | |
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MedLine Citation:
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PMID: 18154916 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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DMT1 deficiency causes microcytic hypochromic anemia due to decreased erythroid iron utilization. Anemia is present from birth. Transferrin saturation is high and serum ferritin is mildly elevated, despite liver iron overload. DMT1 deficiency must be considered in the differential diagnosis of microcytic hypochromic anemia observed in the newborn period. |
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Authors:
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A Iolascon; C Camaschella; D Pospisilova; C Piscopo; G Tchernia; C Beaumont |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The Journal of pediatrics Volume: 152 ISSN: 1097-6833 ISO Abbreviation: J. Pediatr. Publication Date: 2008 Jan |
Date Detail:
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Created Date: 2007-12-24 Completed Date: 2008-01-07 Revised Date: 2012-02-24 |
Medline Journal Info:
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Nlm Unique ID: 0375410 Medline TA: J Pediatr Country: United States |
Other Details:
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Languages: eng Pagination: 136-9 Citation Subset: AIM; IM |
Affiliation:
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Department of Biochemistry and Medical Biotechnologies, University of Federico II and CEINGE Advanced Biotechnologies, Naples, Italy. iolascon@ceinge.unina.it |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Anemia, Hypochromic
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diagnosis,
drug therapy,
genetics* Diagnosis, Differential Erythrocytes / metabolism Erythropoietin / therapeutic use Ferritins / blood Genes, Recessive* Genotype Humans Infant, Newborn Iron Chelating Agents / therapeutic use Mutation* Phenotype Transcription Factors / deficiency, genetics* Transferrin / metabolism |
| Grant Support | |
ID/Acronym/Agency:
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GGP05024//Telethon |
| Chemical | |
Reg. No./Substance:
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0/DMRT1 protein; 0/Iron Chelating Agents; 0/Transcription Factors; 0/Transferrin; 11096-26-7/Erythropoietin; 9007-73-2/Ferritins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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