Two new G gamma chain variants: Hb F-Saint-Etienne [G gamma 79(EF3)Asp-->His] and Hb F-Lyon [G gamma 97(FG4)His-->Arg]

Hemoglobin. 2008;32(5):491-7. doi: 10.1080/03630260802341653.

Abstract

Two new fetal hemoglobin (Hb F) variants affecting the (G)gamma chain are reported: Hb F-Saint-Etienne [G gamma 79(EF3)Asp-->His] and Hb F-Lyon [G gamma 97(FG4)His-->Arg]. These new Hb variants were found during a neonatal screening for hemoglobinopathies but characterized a few months later by our reference laboratory. The corresponding mutations are located on the external part of the Hb molecule and seem to be clinically silent.

MeSH terms

  • Fetal Hemoglobin / genetics*
  • Genetic Testing
  • Hemoglobinopathies / diagnosis
  • Hemoglobinopathies / genetics
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation
  • gamma-Globins / genetics*

Substances

  • Hemoglobins, Abnormal
  • gamma-Globins
  • hemoglobin Saint Etienne
  • Fetal Hemoglobin