Abstract
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Detection of β-Thalassemia/Hemoglobin E Disease in Samples which Initially were Diagnosed as Homozygous Hemoglobin E
by Sakorn Pornprasert, Asami Moriyama, Kanyakan Kongthai, Jarurin Waneesorn, Kanokwan Jaiping, Kallayanee Treesuwan, Yukio Hattori
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Background: Differentiation of β-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 β-thalassemia codons 17 (A > T), 41/42 (-TCTT), 71/72 (+A), and IVSI-nt1 (G > T) mutations and ARMS-PCR for HbE were performed in 67 samples that contained HbA2/E > 75% and HbF < 15%.
Results: β-thalassemia/HbE disease was identified in 10 of 67 (14.93%) samples. Levels of hemoglobin, hematocrit, and mean corpuscular volume (MCV) of β-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 β-thalassemia/HbE disease.
DOI: 10.7754/Clin.Lab.2012.120920
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