What does this research mean for the field?

Thalassemia pathogenic variants are highly prevalent (13.2%) and exhibit substantial regional heterogeneity in Indonesia, with the alpha 3.7 deletion and HbE heterozygosity dominating, demonstrating that routine hematological screening alone is insufficient for accurate carrier identification. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To define the national molecular landscape of alpha- and beta-thalassemia pathogenic variants across diverse Indonesian regions and evaluate the accuracy of conventional screening methods.

August 30, 2026Orphanet Journal of Rare DiseasesOpen Access

The molecular spectrum of alpha- and beta-thalassemia pathogenic variants in Indonesia: implications for national screening and prevention

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Authors

AHAlida R. HarahapUniversity of Indonesia ISIswari SetianingsihEijkman Institute for Molecular Biology LPLidwina PrilianiPelita Harapan University

Discussion

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Implication

Cross-sectional analysis reveals significant regional variation in thalassemia mutations across Indonesia, indicating the need for population-tailored molecular screening panels.

Key Points

To define the national molecular landscape of alpha- and beta-thalassemia pathogenic variants across diverse Indonesian regions and evaluate the accuracy of conventional screening methods.
Analyzed archived hematological records from 4,779 individuals across Western and Eastern Island Southeast Asia collected between 1995 and 2016.
Evaluated red blood cell parameters (MCV, RBC morphology) and HbA2 levels using complete blood count and high-performance liquid chromatography.
Conducted whole-genome sequencing in 180 individuals to identify pathogenic variants in HBA1, HBA2, and HBB genes cataloged in ClinVar.
Pathogenic variants were identified in 13.2% of individuals, exhibiting substantial regional heterogeneity with higher carrier burdens in eastern Indonesia.
Alpha-thalassemia trait was predominantly caused by the alpha 3.7 deletion, while beta-thalassemia trait was mainly driven by HbE heterozygosity.
Genotype-specific hematological profiles demonstrated that standard hematological screening frequently misses mild or silent carriers.

Cite This Study

Harahap et al. (2026) studied this question.

synapsesocial.com/papers/6a93f1176c1a8fb52e79dc6e https://doi.org/10.1186/s13023-026-04580-3

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Implication

Cross-sectional analysis reveals significant regional variation in thalassemia mutations across Indonesia, indicating the need for population-tailored molecular screening panels.

The molecular spectrum of alpha- and beta-thalassemia pathogenic variants in Indonesia: implications for national screening and prevention

Discussion

Member takes

Implication

Key Points

Cite This Study

The molecular spectrum of alpha- and beta-thalassemia pathogenic variants in Indonesia: implications for national screening and prevention

Discussion

Member takes

Implication

Key Points

Cite This Study

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