title: Diagnostic applications of newborn screening for α-thalassaemias, haemoglobins E and H disorders using isoelectric focusing on dry blood spots.
abstract: BACKGROUND
  Neonatal screening for haemoglobin (Hb) disorders is a standard of care in several developed countries with the main objective to detect Hb S. Such practice has not been established in Thailand where α-thalassaemia and haemoglobin E (Hb E) are highly prevalent. Early identification of thalassaemias could be helpful and strengthen the programme for prevention and control for severe thalassaemias.
  
  
  METHODS
  Data from isoelectric focusing (IEF) and Isoscan® for detecting types and amount (%) of each haemoglobin in 350 newborn's dried blood spots were analysed and compared with the comprehensive genotype analysis by DNA studies as a gold standard.
  
  
  RESULTS
  Based on genetic profiles, there were 10 different categories: (1) normal (n = 227), (2) α(+)-thalassaemia trait (n = 14), (3) α(0)-thalassaemia trait (n = 13), (4) β(0)-thalassaemia trait (n = 7), (5) Hb E trait (n = 72), (6) Hb E trait with α(0)-thalassaemia or homozygous α(+)-thalassaemia (n = 5), (7) Hb E trait with α(+)-thalassaemia trait (n = 5), (8) homozygous Hb E (n = 3), (9) homozygous Hb E with α(0)-thalassaemia trait (n = 1) and (10) Hb H disease (n = 3). The presence of Hb Bart's and Hb E were used to identify cases with α-thalassaemia and Hb E, respectively. We set 0.25% of Hb Bart's and 1.5% of Hb E as a cut-off level to detect α(+)-thalassaemia trait (sensitivity 92.86% and specificity 74.0%) and Hb E trait with 100% of both sensitivity and specificity for IEF diagnosis.
  
  
  CONCLUSIONS
  Although molecular diagnosis seems to be better for definitive diagnosis of thalassaemia syndromes at birth, however, using our reference range described herein, IEF can be applied in a resource-limiting setting with acceptable reliability.
authors.affiliation: Hematology Division, Phramongkutklao Hospital, Bangkok, Thailand.
authors.forename: Punyanuch
authors.initials: P
authors.lastname: Jindatanmanusan
authors.forename: Suchada
authors.initials: S
authors.lastname: Riolueang
authors.forename: Waraporn
authors.initials: W
authors.lastname: Glomglao
authors.forename: Yaowapa
authors.initials: Y
authors.lastname: Sukontharangsri
authors.forename: Sangkae
authors.initials: S
authors.lastname: Chamnanvanakij
authors.forename: Kitti
authors.initials: K
authors.lastname: Torcharus
authors.forename: Vip
authors.initials: V
authors.lastname: Viprakasit
mesh_terms: D059788:Dried Blood Spot Testing / Q000379:methods*; D005838:Genotype; D006446:Hemoglobin E / Q000032:analysis* / Q000235:genetics; D006447:Hemoglobin H / Q000032:analysis*; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007525:Isoelectric Focusing / Q000379:methods*; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000097:blood* / Q000175:diagnosis* / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D006446:Hemoglobin E; D006447:Hemoglobin H; C030448:hemoglobin Bart's
keywords: AE-Bart’s disease; EF Bart’s disease; haemoglobin E heterozygote; homozygous haemoglobin E; isoelectric focusing; new born screening; α-Thalassaemia