Acta medica Philippina · 2026
Genetic Heterogeneity of β-thalassemia Variants in Affected Filipinos.
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Silao Catherine Lynn T, Manuel Ma Carmina C, Davila Ronnette Anne E, Fabella Terence Diane F, Laude Rita P, Desengaño Thomas Gabriel H, Estrada Carl Angelo S, Barnuevo Mayceemae M, Poblete Josept Mari S, Padilla Carmencita D, Naranjo Maria Liza T, Yuson Ernesto dJ
Аннотация
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 mutation-based confirmation for diagnosis, carrier screening, genetic counseling, disease management, and formulation of nationwide health policies.
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 mutation-based confirmation for diagnosis, carrier screening, genetic counseling, disease management, and formulation of nationwide health policies.