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Low HbF expression in HbE-β + -thalassemia may lead to misdiagnosis of HbE heterozygosity. We aimed to characterize the β -  and α-globin genes and the modifying factors related to HbF expression in patients with an Hb phenotype similar to that of HbE heterozygotes. Furthermore, screening tools for differentiating HbE-β + -thalassemia from HbE heterozygotes have been investigated. A total of 2133 participants with HbE and HbA with varying HbF levels were recruited. Polymerase chain reaction-based DNA analysis and sequencing were performed to characterize β- and α-globin genes. DNA polymorphism at position −158 nt 5′ to  G γ-globin was performed by  Xmn I restriction digestion. Receiver operating characteristic (ROC) curves were constructed using the area under the curve (AUC). Cutoff values of HbA 2 , HbE, and HbF levels for the differentiation of HbE-β + -thalassemia from HbE heterozygotes were determined. Five β + -thalassemia mutations  trans  to β E -gene (β −87(C&gt;A) , β −31(A&gt;G) , β −28(A&gt;G) , β 19(A&gt;G) , and β 126(T&gt;G) ) were identified in 79 patients. Among these, 54 presented with low HbF levels, and 25 presented with high HbF levels. ROC curve analysis revealed an excellent AUC of 1.000 (95% confidence interval:1.000–1.000) for HbE levels, and a cut-off point of ≥35.0% had 100.0% sensitivity, specificity, and Youden’s index for differentiating HbE-β + -thalassemia from HbE heterozygotes. The proportion of α-thalassemia mutations was 46.3 and 8.0% among HbE-β + -thalassemia patients with low and high HbF levels, respectively. Two rare α-thalassemia mutations (Cap +14(C&gt;G) and initiation codon (ATG&gt;-TG)) of α 2 -globin genes were identified. The genotype and allele of the polymorphism at −158 nt 5′ to  G γ-globin was found to be negatively associated with HbF expression. HbE-β + -thalassemia cannot be disregarded until appropriate DNA analysis is performed, and the detection of α-thalassemia mutations should always be performed under these conditions. An HbE level ≥35.0% may indicate screening of samples for DNA analysis for HbE-β + -thalassemia diagnosis.

annals of medicine

Molecular understanding of unusual HbE-β + -thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels