What question did this study set out to answer?

To identify common hemoglobin variants misinterpreted as β-thalassemia in a large cohort.

April 19, 2026PLoS ONEOpen Access

Common hemoglobin variants affecting the diagnosis of β-thalassemia: A large cohort data at a single center

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This cohort study reports misdiagnosis of β-thalassemia due to hemoglobin variants, suggesting better diagnostic methods.

To identify common hemoglobin variants misinterpreted as β-thalassemia in a large cohort.
Review of hematological data from 43,414 subjects at a thalassemia diagnostic center.
Selective recruitment of 372 subjects with hemoglobin variants for further analysis.
Utilization of high-performance liquid chromatography (HPLC) and capillary electrophoresis for Hb analysis.
Identification of β-globin gene mutations using PCR and related techniques.
21 different hemoglobin variants were identified among the 372 subjects.
12.3% of Hb variants with normal Hb A2 and Hb F levels were misdiagnosed as β-thalassemia.
Misdiagnosis increased to 50.6% for Hb variants with Hb A2 ≥ 3.6% and 52.2% for Hb F ≥ 5.0%.
The combination of Hb A2 ≥ 3.6% and Hb F ≥ 5.0% showed a high misdiagnosis rate of 71.9%.
Specific variants (Hbs Hope, Tak, Cook, C, Lepore, and Q-Thailand) were associated with higher misdiagnosis rates.

Singha et al. (2026) studied this question.

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