Document Detail


Three new structural variants of fetal hemoglobin: Hb F-Campinas [Agamma g121(GH4)Glu --> Gln], Hb F-Paulinia [Ggamma 80(EF4)Asp --> Tyr] and Hb F-Joanopolis [Ggamma73(E17) Asp -->Ala].
MedLine Citation:
PMID:  14607761     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Three new structural variants of fetal hemoglobin were detected in newborns during a neonatal screening for Hb S in the southeast of Brazil: Hb F-Campinas [AgammaI121 (GH4)Glu --> Gln], Hb F-Paulinia [Ggamma80(EF4)Asp -->Tyr] and Hb F-Joanopolis [Ggamma73(E17) Asp -->Ala]. These variants were not related to clinical abnormalities
Authors:
Denise Faustino Duarte; Dulcinéia Martins Albuquerque; Vitoria Regia Pereira Pinheiro; Fernando Ferreira Costa; Maria De Fátima Sonati
Publication Detail:
Type:  Letter; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Haematologica     Volume:  88     ISSN:  1592-8721     ISO Abbreviation:  Haematologica     Publication Date:  2003 Nov 
Date Detail:
Created Date:  2003-11-10     Completed Date:  2004-02-24     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0417435     Medline TA:  Haematologica     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  1316-7     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Amino Acid Sequence
Amino Acid Substitution
Codon / genetics
DNA Mutational Analysis
Female
Fetal Hemoglobin / chemistry,  genetics*
Globins / genetics*
Hemoglobins, Abnormal / chemistry,  genetics*
Humans
Infant, Newborn
Male
Molecular Sequence Data
Mutation, Missense
Neonatal Screening
Point Mutation
Sequence Analysis, DNA
Chemical
Reg. No./Substance:
0/Codon; 0/Hemoglobins, Abnormal; 0/hemoglobin F Campinas; 0/hemoglobin F Joanopolis; 0/hemoglobin F Paulinia; 9004-22-2/Globins; 9034-63-3/Fetal Hemoglobin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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