Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common α-thalassemia point mutations and deletions
Abstract
Background alpha-Thalassemia is a worldwide disease and considered to be a major public health problem in countries within the so-called thalassemia belt. The complex genetics of alpha-thalassemias requires diagnostic methods with the capacity to screen rapidly and accurately for common causative mutations. Methods We developed and validated a reverse-hybridization assay (Alpha-Globin StripAssay) for the rapid and simultaneous detection of 21 alpha-globin mutations: two single gene deletions (-alpha(3.7); -alpha(4.2)), five double gene deletions [--(MED); --(SEA); --(THAI); --(FIL); -(alpha)(20.5)], alpha alpha alpha(anti-3.7) gene triplication, two point mutations in the alpha1 gene (cd 14 G>A; Hb Adana) and 11 point mutations in the alpha2 gene (initiation cd T>C; cd 19 -G; IVS1 -5nt; cd 59 G>A; Hb Quong Sze; Hb Constant Spring; Hb Icaria; Hb Pakse; Hb Koya Dora; polyA-1; polyA-2). Results Reliable genotyping of recombinant mutant clones and reference DNA samples was achieved by means of two corresponding test strips presenting parallel arrays of allele-specific oligonucleotides. The entire procedure from blood sampling to the identification of mutations required less than 6 h, and hybridization/detection was manual or automated. The diagnostic potential of this Alpha-Globin StripAssay was carefully evaluated on 272 pre-typed samples in a multicenter validation study. In 96.14% of the cases, StripAssay typing was completely concordant with the reference methods. Conclusions…
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The strip-assay methods can detect approximately 90% of α-thalassemia gene mutations.
“Secondly, the GAP-PCR was specifically designed to identify the common α-thalassemia deletions, and the strip-assay methods can detect approximately 90% of α-thalassemia gene mutations (8,37).”
From Machine Learning-Based Prediction of Hemoglobinopathies Using Complete Blood Count Data (2024) · cites this paper as [37]
The GAP-PCR was specifically designed to identify the common α-thalassemia deletions.
“Secondly, the GAP-PCR was specifically designed to identify the common α-thalassemia deletions, and the strip-assay methods can detect approximately 90% of α-thalassemia gene mutations (8,37).”
From Machine Learning-Based Prediction of Hemoglobinopathies Using Complete Blood Count Data (2024) · cites this paper as [37]
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Machine Learning-Based Prediction of Hemoglobinopathies Using Complete Blood Count Data
Schipper, A., Rutten, M., van Gammeren, A., Harteveld, C. L., Urrechaga, E., Weerkamp, F., den Besten, G., Krabbe, J., Slomp, J., Schoonen, L., et al. (2024) · Clinical Chemistry · doi:10.1093/clinchem/hvae081 · Cited by 33 · see citing works
- Authors
- Puehringer, H., Najmabadi, H., Law, H.-Y., Krugluger, W., Viprakasit, V., Pissard, S., Baysal, E., Taher, A., Farra, C., Al-Ali, A., Al-Ateeq, S., & Oberkanins, C.
- Affiliations
- University of Social Welfare and Rehabilitation Sciences (IR)
- KK Women's and Children's Hospital (SG)
- Krankenanstalt Rudolfstiftung der Stadt Wien (AT)
- Siriraj Hospital (TH)
- Centre Hospitalier Universitaire Henri-Mondor (FR)
- Dubai Health Authority (AE)
- American University of Beirut Medical Center (LB)
- King Faisal University (SA)
- ORCID
- Venue
- Clinical Chemical Laboratory Medicine
- Publisher
- Walter de Gruyter GmbH
- Published
- 2007-01-01
- Volume
- 45
- Issue
- 5
- Pages
- 605-10
- ISSN
- 1434-6621 (ISSN-L)
- 1437-4331
- OpenAlex
- W2086095115
- Cited by
- 45
- References
- 0
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 3 · 2023: 1 · 2022: 2 · 2021: 2 · 2020: 3 · 2018: 3 · 2017: 1 · 2016: 1 · 2015: 3 · 2014: 2 · 2013: 1 · 2012: 6
- FWCI
- 1.47
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinical Chemistry and Laboratory Medicine (CCLM) (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Health Sciences › Medicine › Hematology › Blood groups and transfusion
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Malaria Research and Control
- Keywords
- alpha-thalassemia, alpha-globin gene mutations, reverse hybridization assay, alpha-globin gene deletion, alpha-globin gene triplication, Hb Constant Spring, thalassemia screening, genotyping
- MeSH terms
- DNA Mutational Analysis, Genotype, Humans, Mass Screening, Nucleic Acid Hybridization, Reagent Kits, Diagnostic, alpha-Thalassemia, Point Mutation, Sequence Deletion
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