Detection of beta-thalassemia/hemoglobin E disease in samples which initially were diagnosed as homozygous hemoglobin E

Clin Lab. 2013;59(5-6):693-7. doi: 10.7754/clin.lab.2012.120920.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cohort Studies
  • DNA Mutational Analysis
  • Fetal Hemoglobin / genetics
  • Genetic Carrier Screening
  • Hemoglobin E / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Polymerase Chain Reaction
  • beta-Thalassemia / diagnosis*
  • beta-Thalassemia / genetics*


  • Hemoglobin E
  • Fetal Hemoglobin