Document Detail


Natural history of recessive inheritance of DMT1 mutations.
MedLine Citation:
PMID:  18154916     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
A Iolascon; C Camaschella; D Pospisilova; C Piscopo; G Tchernia; C Beaumont
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  152     ISSN:  1097-6833     ISO Abbreviation:  J. Pediatr.     Publication Date:  2008 Jan 
Date Detail:
Created Date:  2007-12-24     Completed Date:  2008-01-07     Revised Date:  2013-07-15    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  United States    
Other Details:
Languages:  eng     Pagination:  136-9     Citation Subset:  AIM; IM    
Affiliation:
Department of Biochemistry and Medical Biotechnologies, University of Federico II and CEINGE Advanced Biotechnologies, Naples, Italy. iolascon@ceinge.unina.it
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MeSH Terms
Descriptor/Qualifier:
Anemia, Hypochromic / diagnosis,  drug therapy,  genetics*
Cation Transport Proteins / deficiency,  genetics*
Diagnosis, Differential
Erythrocytes / metabolism
Erythropoietin / therapeutic use
Ferritins / blood
Genes, Recessive*
Genotype
Humans
Infant, Newborn
Iron Chelating Agents / therapeutic use
Mutation*
Phenotype
Transferrin / metabolism
Grant Support
ID/Acronym/Agency:
GGP05024//Telethon
Chemical
Reg. No./Substance:
0/Cation Transport Proteins; 0/Iron Chelating Agents; 0/Transferrin; 0/solute carrier family 11- (proton-coupled divalent metal ion transporters), member 2; 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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