title: [Hb Burgos (α1 CD64(E13)(Asp→Asn)): a new hemoglobin variant detected during follow-up of diabetic patients].
abstract: OBJECTIVE
  The glycated hemoglobin (HbA1c) test by high performance liquid chromatography is a useful tool for the follow-up of diabetes mellitus patients. Some structural hemoglobin (Hb) variants are known to cause interference in the analytical measurement of HbA1c.
  
  
  METHODS
  In this study, it has been characterized a new Hb variant in 4 patients during their regular control of HbA1c.
  
  
  RESULTS
  Selective α1 gene sequencing showed a mutation GAC>AAC at codon 64 within exon 2. This produces a change of aspartic acid (Asp) by asparagine (Asn) that does not produce any functional alteration so the resultant molecule behaves as a silent hemoglobinopathy.
  
  
  CONCLUSIONS
  The structural Hb variants can be detected during the analysis of HbA1c and may alter its values. Though rare, this occurrence signals the need to being aware when measuring HbA1c.
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Clínico San Carlos, Madrid, España. Electronic address: felixfuenteg@hotmail.com.
authors.forename: Félix
authors.initials: F
authors.lastname: de la Fuente-Gonzalo
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Clínico San Carlos, Madrid, España.
authors.forename: Jorge
authors.initials: J
authors.lastname: Martínez Nieto
authors.affiliation: Servicio de Análisis Clínicos, Hospital Clínico San Carlos, Madrid, España.
authors.forename: María José
authors.initials: MJ
authors.lastname: Torrejón
authors.affiliation: Servicio de Hematología, Hospital Reina Sofía, Tudela, Navarra, España.
authors.forename: Luis Antonio
authors.initials: LA
authors.lastname: Mayor
authors.affiliation: Laboratorio BR Salud, Madrid, España.
authors.forename: Diego
authors.initials: D
authors.lastname: Velasco
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Clínico San Carlos, Madrid, España.
authors.forename: Fernando Ataulfo
authors.initials: FA
authors.lastname: González Fernández
authors.affiliation: Servicio de Hematología y Hemoterapia, Hospital Clínico San Carlos, Madrid, España.
authors.forename: Paloma
authors.initials: P
authors.lastname: Ropero Gradilla
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D016477:Artifacts; D002851:Chromatography, High Pressure Liquid; D002852:Chromatography, Ion Exchange; D003062:Codon / Q000235:genetics; D003920:Diabetes Mellitus / Q000097:blood* / Q000235:genetics; D005091:Exons / Q000235:genetics; D005838:Genotype; D006442:Glycated Hemoglobin / Q000032:analysis* / Q000737:chemistry; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation; D017422:Sequence Analysis, DNA; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D003062:Codon; D006442:Glycated Hemoglobin; D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C106312:hemoglobin A2 Etolia; C000600342:hemoglobin Burgos
keywords: Diabetes mellitus; Glycated hemoglobin; Hemoglobina glucosilada; Hemoglobinopatía estructural; Secuenciación; Sequencing; Structural hemoglobinopathy