Publication: Retrospective study and implementation of a low-cost LAMP-turbidimetric assay for screening α<sup>0</sup>-thalassemia (SEA deletion): preventing and controlling Hb Bart’s hydrops fetalis syndrome in Thailand
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Issued Date
2024-01-01
Resource Type
eISSN
21678359
Scopus ID
2-s2.0-85186467989
Journal Title
PeerJ
Volume
12
Rights Holder(s)
SCOPUS
Bibliographic Citation
PeerJ Vol.12 (2024)
Suggested Citation
Jomoui W., Saknava K., Prechatrammaruch K., Ondee Y. Retrospective study and implementation of a low-cost LAMP-turbidimetric assay for screening α<sup>0</sup>-thalassemia (SEA deletion): preventing and controlling Hb Bart’s hydrops fetalis syndrome in Thailand. PeerJ Vol.12 (2024). doi:10.7717/peerj.17054 Retrieved from: https://hdl.handle.net/20.500.14740/20569
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Abstract
Homozygous α0-thalassemia (SEA deletion) or Hb Bart’s hydrops fetalis syndrome is a significant public health issue in Thailand and Southeast Asia. A prevention and control program has been implemented in this region. This study focuses on retrospective laboratory data collected between January 2021 and April 2023 at a single center. Additionally, we developed a low-cost LAMP-turbidimetric assay to propose in the screening strategy. A total of 3,623 samples underwent screening tests (MCV, MCH, and DCIP), including 1,658 couple screenings (84.25%) and 310 single pregnant screenings (15.75%). Negative screenings, which did not require further investigation, were found in 75.51% for couple screenings and 46.58% for single pregnant screenings. At hemoglobin (Hb) analysis identified 129 couples which had fetuses at risk of severe thalassemia, whereas molecular analysis during the retrospective period revealed 210 samples with different genotypes. These remaining samples were validated using the low-cost LAMP-turbidimetric assay to detect α0-thalassemia (SEA deletion). The developed LAMP turbidimetric assay demonstrated a sensitivity and specificity of 100% (36/36 × 100) and 97.7% (170/174 × 100), respectively, when compared with gap-PCR. Furthermore, we propose a strategy involving the addition of the low-cost LAMP-turbidimetric assay before performing the gold standard. This strategy represents a cost-saving of USD 2,608 based on 210 samples that required DNA analysis. Finally, the developed LAMP turbidimetric assays offer advantages such as reduced time, workload, cost savings, no need for highly developed instruments, and a straightforward interpreting process. Therefore, implementation of LAMP assays into routine settings would be improve the efficiency of prevention and control program for severe thalassemia disease in this region.