Original articles

Application of high performance liquid chromatography (HPLC) and erythrocyte parameters in the screening of hemoglobinopathy

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  • 1. Faculty of Medical Laboratory Science, Shanghai Jiao Tong University School of Medicine
    2. Department of Clinical Laboratory, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China
    3. Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Received date: 2020-07-01

  Online published: 2022-06-28

Abstract

Objective: To explore the application value of high performance liquid chromatography (HPLC) and erythrocyte parameters for screening of thalassemia in Shanghai. Methods: The hemoglobin of 1 029 samples from patients with suspected thalassemia and with suspected hemolytic anemia were analyzed using HPLC. Genetic analysis of the globin were performed simultaneously with GAP-PCR,reverse dot blot(RDB) and DNA sequencing. Results: Among 1029 samples, 591(57.43%) were diagnosed as having thalassemia and 14 (1.36%) having structural hemoglobin variants.Compared with results of genetic analysis,the sensitivity,specificity,positive predictive value and negative predictive value of HbA2 >3.9% by HPLC as cut-off value for diagnosing β-thalassemia were 95.84%, 96.87%, 95.40%, 97.20%,with AUC of 0.962. When HbA2≤2.1% by HPLC as the cutoff value combined with presence of rapid band were taken for diagnosing α-thalassemia moderate(HbH disease), sensitivity, specificity, positive predictive value, negative predictive value were 96.32%, 52.60%, 100.00 %, with AUC of 0.990. If f HbA2 ≤3.2% by HPLC was taken as the cutoff value for diagnosing minor α-thalassemia or α-thalassemia trait, the corresponding indice were 97.76%, 53.11%, 24.0%, 99.4%,and AUC was 0.753. If MCV≤73.3 fl,MCH≤23.5 pg,MCHC≤324g/L were taken as the cutoff value alone for diagnosing thalassemia, sensitivity and specificity were 87.98%,77.51%, 93.73% and 69.86%, 89.20%,47.61%,respectively. Conclusions: Based on RBC parameters analysis,results of HPLC technology have a good consistence with the resluts of gene detection in the diagnosis of β-thalassemia, HbH disease and structural hemoglobin variant, while a low specificity and positive predictive value may occur in the diagnosis of minor α-thalassemia orα-thalassemia trait.

Cite this article

WANG Yefei, WU Beiying, XIA Wenquan, HU Yiqun . Application of high performance liquid chromatography (HPLC) and erythrocyte parameters in the screening of hemoglobinopathy[J]. Journal of Diagnostics Concepts & Practice, 2021 , 20(03) : 271 -278 . DOI: 10.16150/j.1671-2870.2021.03.008

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