title: [Beta globin haplotypes in hemoglobin S carriers in Colombia].
abstract: BACKGROUND
  The hemoglobin S (HbS) mutation is accompanied by other mutations in the region of chromosome 11 known as "beta globin cluster". The pattern of combination of these polymorphisms giving rise to the haplotypes that co-inherit the HbS mutation, are called haplotypes bs, and are of great epidemiological and clinical significance.
  
  
  OBJECTIVE
  The frequencies of major haplotypes associated with S beta-globin gene was determined in Colombian patients heterozygous for hemoglobin S.
  
  
  METHODS
  As part of the national neonatal screening program at Clínica Colsanitas, located in major cities of Colombia, nearly 1,200 children from different areas of the country were examined for hemoglobinopathies. The sickle cell trait was identified as the most common. S beta-globin gene haplotypes were determined by PCR and restriction enzymes in 33 children with AS hemoglobin electrophoretic patterns (carrier state). In addition, electrophoretic patterns of hemoglobin, fetal hemoglobin levels and hematologic parameters of each individual were identified.
  
  
  RESULTS
  The most frequent haplotypes in Colombia were the Bantú haplotype (36.4 %), followed by Senegal (30.3 %), Benin (21.2 %) and Cameroon (12.1 %) haplotypes. Hemoglobin electrophoresis confirmed the AS phenotype in all patients, and fetal hemoglobin levels below 1%. Other hematological parameters were normal in all cases.
  
  
  CONCLUSIONS
  The HbS haplotypes found more frequently in the sample were of African origin, and their distribution varied according to the place of origin of the individual. The most frequent corresponded to the Bantu haplotype.
authors.affiliation: Laboratorio Clínico, Clínica Colsanitas, Bogotá, D.C, Colombia.
authors.forename: Claudia Liliana
authors.initials: CL
authors.lastname: Durán
authors.forename: Olga Lucía
authors.initials: OL
authors.lastname: Morales
authors.forename: Sandra Johanna
authors.initials: SJ
authors.lastname: Echeverri
authors.forename: Mario
authors.initials: M
authors.lastname: Isaza
mesh_terms: D017954:Africa South of the Sahara / Q000208:ethnology; D000755:Anemia, Sickle Cell / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D001797:Blood Protein Electrophoresis; D003105:Colombia / Q000453:epidemiology; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D006239:Haplotypes / Q000235:genetics; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D012805:Sickle Cell Trait / Q000097:blood / Q000208:ethnology / Q000235:genetics; D055544:beta-Globins / Q000235:genetics*
chemical_list: D006451:Hemoglobin, Sickle; D055544:beta-Globins; D005319:Fetal Hemoglobin