Evidence map›Paper›PMID 42540824›Full record

ArticleActa medica Philippina2026

Genetic Heterogeneity of β-thalassemia Variants in Affected Filipinos.

Catherine Lynn T Silao, Ma Carmina C Manuel, Ronnette Anne E Davila, Terence Diane F Fabella, Rita P Laude, Thomas Gabriel H Desengaño, Carl Angelo S Estrada, Mayceemae M Barnuevo, Josept Mari S Poblete, Carmencita D Padilla and 2 more

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Article in Acta medica Philippina, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

12 authors.

Catherine Lynn T SilaoInstitute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.
Ma Carmina C ManuelInstitute of Biological Sciences, Genetics and Molecular Biology Division, University of the Philippines Los Baños, Laguna, Philippines.
Ronnette Anne E DavilaInstitute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.
Terence Diane F FabellaInstitute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.
Rita P LaudeInstitute of Biological Sciences, Genetics and Molecular Biology Division, University of the Philippines Los Baños, Laguna, Philippines.
Thomas Gabriel H DesengañoInstitute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.
Carl Angelo S EstradaInstitute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.
Mayceemae M BarnuevoInstitute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.
Josept Mari S PobleteCollege of Medicine and Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.
Carmencita D PadillaInstitute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.
Maria Liza T NaranjoNational Children's Hospital, Quezon City, Philippines.
Ernesto dJ YusonLung Center of the Philippines, Quezon City, Philippines.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: β-thalassemia, a hereditary blood disorder, is characterized by the reduction or absence of β-globin chain synthesis, with disease severity depending on population-specific HBB variants. This is the first report to present the molecular profile of Filipino β-thalassemia patients. Methods: Deletion analysis, β-globin StripAssay analysis, and HBB gene sequencing were performed in 237 patients with β-thalassemia. Results: Twenty-one (21) previously published β-thalassemia variants - ten (10) pathogenic point mutations [c.79G>A (HbE) (48.52%), c.92+2T>C (1.47%), c.52A>T (0.84%), c.92+5G>C (0.63%), c.-50A>C (cap+1) (0.42%), c.79G>T (0.21%), c.59A>G (Malay) (0.21%), c.47G>A (0.21%), c.20A>T (HbS) (0.21%), and c.2T>G (initiation codon) (0.21%)]; five (5) pathogenic deletions [ Conclusion: The genetic heterogeneity of β-thalassemia in affected Filipinos emphasizes the value of mutation-based confirmation for diagnosis, carrier screening, genetic counseling, disease management, and formulation of nationwide health policies.

Indexed as

beta thalassemiaFilipinoHBBmolecularvariant

Identifiers

PMID42540824
PMCPMC13426378

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