title: [Hemoglobin variants in Colombian patients referred to discard hemoglobinopathies].
abstract: BACKGROUND
  Oxygen transport is altered in hemoglobinopathies.
  
  
  OBJECTIVE
  To study the distribution of hemoglobinopathies in Andean subjects without African ancestry.
  
  
  METHODS
  We analyzed blood samples of 1,407 subjects aged 18 to 59 years (58% females), living in the central Andean region of Colombia, referred to discard hemoglobinopathies. The frequency and type of hemoglobinopathy was established by capillary and agarose gel electrophoresis.
  
  
  RESULTS
  The frequency of hemoglobinopathies was 34.5% and higher among females. The structural variants found were: AS-heterozygous hemoglobin (8.1%), homozygous SS (3.7%), heterozygous SC (2.2%), AC heterozygotes (0.5%) and heterozygous AE (0.3%). Quantitative variants found were Hb A-Beta thalassemia (13.91%) and Hb H (0.06%), Beta-thalassemia heterozygotes C (0.88%), S-Beta thalassemia heterozygotes (6.07%) and compound heterozygous SC/Beta thalassemia (0.25%), with a persistence of fetal hemoglobin 0. Composite thalassemia was also found in 31%. All techniques showed good correlation and capillary electrophoresis demonstrated a greater detection of hemoglobin variants.
  
  
  CONCLUSIONS
  The frequency of hemoglobin variants in the analyzed population was high, which is an important public health indicator. The most common hemoglobin variant was HbA/Increased structural Hb A2 and the mos frequent structural hemoglobinopathy was sickle cell trait. Capillary electrophoresis can discern any Hb variants present in the population.
authors.forename: Consuelo
authors.initials: C
authors.lastname: Romero-Sánchez
authors.forename: Alberto
authors.initials: A
authors.lastname: Gómez Gutiérrez
authors.forename: Yurani
authors.initials: Y
authors.lastname: Duarte
authors.forename: Constanza
authors.initials: C
authors.lastname: Amazo
authors.forename: Clara
authors.initials: C
authors.lastname: Manosalva
authors.forename: Lorena
authors.initials: L
authors.lastname: Chila M
authors.forename: María Consuelo
authors.initials: MC
authors.lastname: Casas-Gómez
authors.forename: Ignacio
authors.initials: I
authors.lastname: Briceño Balcázar
mesh_terms: D000328:Adult; D003105:Colombia / Q000453:epidemiology; D004587:Electrophoresis, Agar Gel; D019075:Electrophoresis, Capillary; D005260:Female; D006453:Hemoglobinopathies / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology* / Q000208:ethnology; D006454:Hemoglobins / Q000032:analysis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D006454:Hemoglobins