Publication: Direct cord blood LAMP colorimetric phenol red assay for detecting α<sup>0</sup>-thalassemia (SEA deletion); the validation and post-natal screening in Thailand
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Issued Date
2023-01-01
Resource Type
ISSN
00365513
eISSN
15027686
Scopus ID
2-s2.0-85176279445
Pubmed ID
37933918
Journal Title
Scandinavian Journal of Clinical and Laboratory Investigation
Volume
83
Issue
7
Start Page
495
End Page
500
Rights Holder(s)
SCOPUS
Bibliographic Citation
Scandinavian Journal of Clinical and Laboratory Investigation Vol.83 No.7 (2023) , 495-500
Suggested Citation
Karnpean R., Narkwichean A., Laosooksathit W., Panichchob P., Jomoui W. Direct cord blood LAMP colorimetric phenol red assay for detecting α<sup>0</sup>-thalassemia (SEA deletion); the validation and post-natal screening in Thailand. Scandinavian Journal of Clinical and Laboratory Investigation Vol.83 No.7 (2023) , 495-500. 500. doi:10.1080/00365513.2023.2278519 Retrieved from: https://hdl.handle.net/20.500.14740/20256
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Abstract
Post-natal or newborn screening for thalassemia and hemoglobinopathies is useful for genetic counseling and managing thalassemia in children. We characterized thalassemia genotypes in newborns from the eastern part of Thailand. The results demonstrated a high heterogeneity of thalassemia and hemoglobinopathies with seventeen genotypes. We focused on α0- thalassemia (Southeast Asian [SEA] deletion) in this study. We developed and validated the loop-mediated isothermal amplification (LAMP) colorimetric assay for detecting α0- thalassemia (SEA deletion) using simple direct cord blood sampling compared to genomic DNA. A total of 160 cord blood samples were evaluated with the LAMP assay. The sensitivity and specificity of the LAMP colorimetric assay for α0-thalassemia (SEA deletion) using direct cord blood showed 100% (6/6 x 100) and 98.05% (151/154 x 100) whereas, genomic DNA showed 100% (6/6 x 100) and 100% (154/154 x 100), respectively. Moreover, we demonstrated other simple screening tools for α0-thalassemia with %Hb Bart’s, MCV, and MCH values and found that these parameters were not diagnostic in our samples. The direct cord blood with colorimetric LAMP assay is simple, rapid, and does not require a post-LAMP step compared to conventional PCR. These techniques could be applied in post-natal or large population screening for α0-thalassemia (SEA deletion). Finally, this could support early prevention of complications, early management, genetic counseling for α-thalassemia disease in children, or a long-term prevention and control program of severe thalassemia in Thailand.