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]

Haematologica. 2003 Nov;88(11):1316-7.

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

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Codon / genetics
  • DNA Mutational Analysis
  • Female
  • Fetal Hemoglobin / chemistry
  • Fetal Hemoglobin / genetics*
  • Globins / genetics*
  • Hemoglobins, Abnormal / chemistry
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Molecular Sequence Data
  • Mutation, Missense
  • Neonatal Screening
  • Point Mutation
  • Sequence Analysis, DNA

Substances

  • Codon
  • Hemoglobins, Abnormal
  • hemoglobin F Campinas
  • hemoglobin F Joanopolis
  • hemoglobin F Paulinia
  • Globins
  • Fetal Hemoglobin