title: Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study.
abstract: OBJECTIVE
  Hemoglobinopathies are among the commonest and most widespread genetic disorders worldwide. Their prevalence varies according to ethnic composition and/or geographical region. The aim of this study was to investigate the presence of hemoglobinopathies and their association with ethnicity among 1,004 newborns, to confirm the guideline of the Brazilian National Neonatal Screening Program.
  
  
  METHODS
  Cross-sectional study conducted in a public referral hospital in the Triângulo Mineiro region, Minas Gerais, Brazil.
  
  
  METHODS
  Qualitative assessment of hemoglobin was performed through electrophoresis on cellulose acetate: at alkaline pH to identify the hemoglobin (Hb) profile and at acid pH to differentiate Hb S from Hb D and Hb C from Hb E and others that migrate to similar positions at alkaline pH. Neutral pH was used to detect Hb Bart's identified in alpha thalassemia (α-thal). The elution method after electrophoresis was used to quantitatively assess hemoglobins.
  
  
  RESULTS
  There was predominance of α-thal, with 105 cases (10.46%), followed by Hb S with 61 cases (6.08%, comprising 46 Hb AS, 2 Hb SS and 13 Hb S/α-thal), 9 cases (0.9%) of Hb AC and 6 cases (0.6%) suggestive of beta thalassemia (β-thal). The frequency of hemoglobinopathies was significantly higher among Afro-descendants.
  
  
  CONCLUSIONS
  These findings corroborated of the National Neonatal Screening Program for diagnosing sickle cell disease and Hb C, Hb D, Hb E and β-thal hemoglobinopathies.
authors.affiliation: Universidade Federal do Triângulo Mineiro, Uberaba, Minas Gerais, Brazil.
authors.forename: Aline Menezes
authors.initials: AM
authors.lastname: Carlos
authors.affiliation: Universidade Federal do Triângulo Mineiro, Uberaba, Minas Gerais, Brazil.
authors.forename: Renata Andréia Volpe
authors.initials: RA
authors.lastname: Souza
authors.affiliation: Universidade Federal do Triângulo Mineiro, Uberaba, Minas Gerais, Brazil.
authors.forename: Bruna Maria Bereta de
authors.initials: BM
authors.lastname: Souza
authors.affiliation: Biostatistics Section, Department of Nursing, Universidade Federal do Triângulo Mineiro, Uberaba, Minas Gerais, Brazil.
authors.forename: Gilberto de Araujo
authors.initials: Gde A
authors.lastname: Pereira
authors.affiliation: Forensic Medicine Section, Department of Social Medicine, Universidade Federal do Triângulo Mineiro, Uberaba, Minas Gerais, Brazil.
authors.forename: Sebastião
authors.initials: S
authors.lastname: Tostes Júnior
authors.affiliation: Hematology and Hemotherapy Section, Department of Medicine, Universidade Federal do Triângulo Mineiro, Uberaba, Minas Gerais, Brazil.
authors.forename: Paulo Roberto Juliano
authors.initials: PR
authors.lastname: Martins
authors.affiliation: Hematology and Hemotherapy Section, Department of Medicine, Universidade Federal do Triângulo Mineiro, Uberaba, Minas Gerais, Brazil.
authors.forename: Helio
authors.initials: H
authors.lastname: Moraes-Souza
mesh_terms: D001938:Brazil / Q000453:epidemiology; D003430:Cross-Sectional Studies; D004587:Electrophoresis, Agar Gel; D005006:Ethnicity; D005260:Female; D005838:Genotype; D006453:Hemoglobinopathies / Q000453:epidemiology*; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D015995:Prevalence; D017678:Sex Distribution
chemical_list: D006455:Hemoglobins, Abnormal