title: Detection of beta-thalassemia/hemoglobin E disease in samples which initially were diagnosed as homozygous hemoglobin E.
abstract: BACKGROUND
  Differentiation of beta-thalassemia/HbE disease from homozygous HbE in samples containing HbA2/E > 75% and HbF < 15% is difficult. The aim of this study is to observe the possibility of using Hb typing and hematological parameters to identify both disorders.
  
  
  METHODS
  Multiplex amplification refractory mutation system (MARMS)-PCR for beta-thalassemia codons 17 (A > T), 41/42 (-TCTT), 71/72 (+A), and IVSI-ntl (G > T) mutations and ARMS-PCR for HbE were performed in 67 samples that contained HbA2/E > 75% and HbF < 15%.
  
  
  RESULTS
  Beta-thalassemia/HbE disease was identified in 10 of 67 (14.93%) samples. Levels of hemoglobin, hematocrit, and mean corpuscular volume (MCV) of beta-thalassemia/HbE disease were significantly lower than those of homozygous HbE whereas, levels of HbF were significantly higher.
  
  
  CONCLUSIONS
  In places where the molecular analysis is not available, HbF > 5% in combination with MCV < 55 fL, hemoglobin < 100 g/L, and hematocrit < 0.30 L/L could be used for screening of beta-thalassemia/HbE disease.
authors.affiliation: Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang-Mai University, Chiang-Mai, Thailand. sakornmi001@gmail.com
authors.forename: Sakorn
authors.initials: S
authors.lastname: Pornprasert
authors.forename: Asami
authors.initials: A
authors.lastname: Moriyama
authors.forename: Kanyakan
authors.initials: K
authors.lastname: Kongthai
authors.forename: Jarurin
authors.initials: J
authors.lastname: Waneesorn
authors.forename: Kanokwan
authors.initials: K
authors.lastname: Jaiping
authors.forename: Kallayanee
authors.initials: K
authors.lastname: Treesuwan
authors.forename: Yukio
authors.initials: Y
authors.lastname: Hattori
mesh_terms: D000328:Adult; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005319:Fetal Hemoglobin / Q000235:genetics; D006580:Genetic Carrier Screening; D006446:Hemoglobin E / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D016133:Polymerase Chain Reaction; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D006446:Hemoglobin E; D005319:Fetal Hemoglobin