title: Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.
abstract: BACKGROUND
  Phenotype studies still occupy a key position in the diagnosis of hemoglobin (Hb) disorders.
  
  
  METHODS
  In addition to the conventional methods for diagnosis of Hb disorders which are mostly based on differences in charge of the Hb molecules, some progresses have been brought by studying other properties of the globin chains. Among those, difference in hydrophobicity that may be investigated by reversed-phase HPLC (RP-HPLC) discriminates between variants displaying identical charges.
  
  
  RESULTS
  In this study, we show how an update of this method allows to recognize an α-chain variant from a γ-chain variant, a problem frequently during neonatal screening. We illustrate that RP-HPLC may also unravel unclear phenotypes which are modified by the presence of an additional variant not detected by the conventional methods, and help to characterize rare mutants. Also we show that it allows a clear distinction between variants with identical electrophoretical charges as exemplified by Hb Lepore Boston-Washington and Lepore Baltimore.
  
  
  CONCLUSIONS
  In view of our results, RP-HPLC is a technique that needs to be used as a second step in the general strategy for a correct characterization of Hb variants.
authors.affiliation: Département de Génétique, GHU Henri Mondor, Créteil, France.
authors.forename: J
authors.initials: J
authors.lastname: Riou
authors.forename: S
authors.initials: S
authors.lastname: Pissard
authors.forename: M
authors.initials: M
authors.lastname: Goossens
authors.forename: H
authors.initials: H
authors.lastname: Wajcman
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D002851:Chromatography, High Pressure Liquid; D056148:Chromatography, Reverse-Phase / Q000379:methods; D055554:Hemoglobin Subunits / Q000737:chemistry* / Q000235:genetics; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype
chemical_list: D055554:Hemoglobin Subunits; D006455:Hemoglobins, Abnormal
keywords: Globin chains; RP-HPLC; abnormal hemoglobins; neonatal diagnosis