title: Hemoglobin Seville [α2 β2 81(EF5) Leu→Phe] a silent phenotypic variant that interferes in hemoglobin A1c measurement by ion-exchange HPLC method.
abstract: OBJECTIVE
  The aim of the study was to investigate hemoglobin (Hb) species in a 61 year-old male with diabetes mellitus type II and a low value of Hb A(1c).
  
  
  METHODS
  Hb species were analyzed by electrophoresis and chromatography methods. Functional properties were determined by oxygen equilibrium studies. β-globin gene was amplified by PCR and sequenced.
  
  
  CONCLUSIONS
  A novel clinically silent Hb (Hb Seville), that results in falsely low Hb A(1c) measurement, was detected. This Hb variant presented a single base mutation at codon 81 (C→T) of the β-globin gene. This case points out the necessity of careful inspection of the chromatograms and the use of additional methods to Hb A(1c) measurement when the presence of aberrant peaks is detected.
authors.affiliation: Department of Clinical Biochemistry, Virgen del Rocio University Hospital. Instituto de Biomedicina de Sevilla (IBIS/CSIC/University of Sevilla), Avda. Manuel Siurot, s/n. 41013 Seville, Spain.
authors.forename: Teresa Herrera
authors.initials: TH
authors.lastname: del Rey
authors.forename: Manuel
authors.initials: M
authors.lastname: Conde-Sánchez
authors.forename: Paloma
authors.initials: P
authors.lastname: Ropero-Gradilla
authors.forename: Inmaculada
authors.initials: I
authors.lastname: Domínguez-Pascual
authors.forename: Fernando A
authors.initials: FA
authors.lastname: González-Fernández
authors.forename: Ana
authors.initials: A
authors.lastname: Villegas
authors.forename: Juan M
authors.initials: JM
authors.lastname: Guerrero
mesh_terms: D002851:Chromatography, High Pressure Liquid / Q000379:methods*; D002852:Chromatography, Ion Exchange / Q000379:methods*; D056148:Chromatography, Reverse-Phase; D006442:Glycated Hemoglobin / Q000032:analysis* / Q000302:isolation & purification; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: D006442:Glycated Hemoglobin; D006455:Hemoglobins, Abnormal