Reliability of hemoglobin A2 value as measured by the Premier Resolution system for screening of β-thalassemia carriers.

Abstract

OBJECTIVES:

Accurate quantification of hemoglobin (Hb) A2 is vital for diagnosing β-thalassemia carriers. This study aimed to assess the precision and diagnostic utility of HbA2 measurements using the new high-performance liquid chromatography (HPLC) method, Premier Resolution, in comparison to capillary electrophoresis (CE).

METHODS:

We analyzed 418 samples, previously identified as A2A by CE, using Premier Resolution-HPLC. We compared the results, established correlations, and determined an optimal HbA2 cutoff value for β-thalassemia screening. Additionally, we prospectively evaluated the chosen cutoff value in 632 samples. Mutations in the β- and α-globin genes were identified using polymerase chain reaction (PCR) techniques and DNA sequencing.

RESULTS:

HbA2 levels were consistently higher with Premier Resolution, yet there was a significant correlation with CE in all samples (bias, -0.33; r, 0.991), β-thalassemia (bias, -0.27; r, 0.927), and non-β-thalassemia carriers (bias, -0.36; r, 0.928). An HbA2 cutoff value of ≥4.0 % for β-thalassemia screening achieved 100 % sensitivity and 99.6 % specificity. Further validation yielded sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of 97.3 , 99.8, 97.3, 99.8, and 99.7 %, respectively. We also identified a rare β-Hb variant, Hb La Desirade [HBB:c.389C>T], associated with β-thalassemia and co-inherited with a single α-globin gene.

CONCLUSIONS:

The Premier Resolution HPLC is a reliable and accurate method for routine β-thalassemia carrier screening, aligning with existing CE methods.

• Authors: Surada Satthakarn, Kesorn Panyasai, Amphai Phasit, Sitthichai Panyasai
• Journal: Clinical chemistry and laboratory medicine (Clin Chem Lab Med) (Oct 17 2023) ISSN: 1437-4331 [Electronic] Germany
• PMID: 37845805 (Publication Type: Journal Article)
• Copyright: © 2023 Walter de Gruyter GmbH, Berlin/Boston.