Abstract
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
Publication types
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Amino Acid Sequence
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Amino Acid Substitution
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Codon / genetics
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DNA Mutational Analysis
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Female
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Fetal Hemoglobin / chemistry
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Fetal Hemoglobin / genetics*
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Globins / genetics*
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Hemoglobins, Abnormal / chemistry
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Hemoglobins, Abnormal / genetics*
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Humans
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Infant, Newborn
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Male
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Molecular Sequence Data
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Mutation, Missense
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Neonatal Screening
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Point Mutation
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Sequence Analysis, DNA
Substances
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Codon
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Hemoglobins, Abnormal
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hemoglobin F Campinas
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hemoglobin F Joanopolis
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hemoglobin F Paulinia
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Globins
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Fetal Hemoglobin