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This study investigates the molecular characteristics of beta-thalassemia following a revised Hb A2 cut-off in Thailand.

Elevated Hemoglobin A 2 : A Molecular Revisited, and Implications to β‐Thalassemia Screening

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Randomized trial examined molecular basis of beta-thalassemia in Thai subjects, indicating significant diagnostic implications.

This study investigates the molecular characteristics of beta-thalassemia following a revised Hb A2 cut-off in Thailand.
Analyzed 36,313 retrospective specimens from January 2016 to June 2025.
Recruited 5909 subjects with Hb A2 ≥ 3.6%, conducting Hb and DNA analyses for diagnosis.
Identified 50 different beta-thalassemia mutations, including novel ones.
Out of 5909 subjects, 5117 (94.8%) had beta-thalassemia, with 50 different mutations identified.
Falsely elevated Hb A2 was found in 70.8% of misinterpreted cases, affecting diagnostic accuracy.
Highlighting the need for cost-effective beta-thalassemia screening methods due to the new cut-off.

Singha et al. (2026) studied this question.

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