Genetic Heterogeneity of β-thalassemia Variants in Affected Filipinos

Authors

  • Catherine Lynn T. Silao, MD, PhD Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines , College of Medicine and Philippine General Hospital, University of the Philippines Manila, Manila, Philippines
  • Ma. Carmina C. Manuel, PhD Institute of Biological Sciences, Genetics and Molecular Biology Division, University of the Philippines Los Baños, Laguna, Philippines
  • Ronnette Anne E. Davila Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines https://orcid.org/0009-0009-6443-6560 (unauthenticated)
  • Terence Diane F. Fabella, MS Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines
  • Rita P. Laude, PhD Rita P. Laude, PhD Institute of Biological Sciences, Genetics and Molecular Biology Division, University of the Philippines Los Baños, Laguna, Philippines
  • Thomas Gabriel H. Desengaño Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines
  • Carl Angelo S. Estrada Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines
  • Mayceemae M. Barnuevo, MPH Mayceemae M. Barnuevo, MPH Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines
  • Josept Mari S. Poblete, MD, PHD Josept Mari S. Poblete, MD, PHD College of Medicine and Philippine General Hospital, University of the Philippines Manila, Manila, Philippines
  • Carmencita D. Padilla, MD, MAHPS Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines , College of Medicine and Philippine General Hospital, University of the Philippines Manila, Manila, Philippines
  • Maria Liza T. Naranjo, MD National Children’s Hospital, Quezon City, Philippines
  • Ernesto dJ. Yuson, MD Lung Center of the Philippines, Quezon City, Philippines

DOI:

https://doi.org/10.47895//amp.vi0.13830

Keywords:

beta thalassemia, Filipino, HBB, molecular, variant

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 [HBB Filipino deletion (23.42%), c.203_204delTG (5.49%), c.126_129delCTTT (codon 41/42) (1.68%), c.155delC (0.63%), and c.110delC (0.21%)]; two (2) conflicting patterns of pathogenicity [c.27dup (0.42%) and c.170G>A Hb J-Bangkok (0.21%)]; and four (4) polymorphisms [c.9T>C (codon 2) (40.93%), c.315+16G>C (36.92%), c.316-185C>T (25.74%), and c.-92C>G (0.21%) – were identified.

Conclusion. The genetic heterogeneity of β-thalassemia in affected Filipinos emphasizes the value of mutationbased confirmation for diagnosis, carrier screening, genetic counseling, disease management, and formulation of nationwide health policies.

References

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Published

06/10/2026

Issue

Vol. 60 No. 11 (2026)

Section

Articles

License

Copyright (c) 2026 Catherine Lynn T. Silao, MD, PhD, Ma. Carmina C. Manuel, PhD, Ronnette Anne E. Davila, Terence Diane F. Fabella, MS, Rita P. Laude, PhD Rita P. Laude, PhD, Thomas Gabriel H. Desengaño, Carl Angelo S. Estrada, Mayceemae M. Barnuevo, MPH Mayceemae M. Barnuevo, MPH, Josept Mari S. Poblete, MD, PHD Josept Mari S. Poblete, MD, PHD, Carmencita D. Padilla, MD, MAHPS, Maria Liza T. Naranjo, MD, Ernesto dJ. Yuson, MD

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How to Cite

1.
Genetic Heterogeneity of β-thalassemia Variants in Affected Filipinos. Acta Med Philipp [Internet]. 2026 Jun. 10 [cited 2026 Jul. 13];60(11). Available from: https://actamedicaphilippina.upm.edu.ph/index.php/acta/article/view/13830

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