October 1, 2025Blood ResearchOpen Access

Molecular spectrum and carrier frequency of deletional hereditary persistence of fetal hemoglobin and delta-beta thalassemia in Malaysia

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Retrospective study highlights high carrier frequency of thalassemia and HPFH in Malaysia, indicating urgent screening needs.

Heterozygous carriers of δβ-thalassemia and HPFH showed significant variance in hematological parameters, underscoring genetic diversity.
Among 534 carriers, the most common deletions were Gγ(Aγδβ)°-thalassemia Siriraj I and δβ°-thalassemia Thai, comprising nearly 60% of cases.
Genotyping utilized Multiplex Gap-PCR, which effectively detected large deletions in the β-globin gene cluster among Malaysian patients.
The study calls for integrating molecular diagnostics into national screening programs to better manage thalassemia in Malaysia.

Hamid et al. (2025) studied this question.

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October 1, 2025Blood ResearchOpen Access

View Full Paper

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Authors

Retrospective study highlights high carrier frequency of thalassemia and HPFH in Malaysia, indicating urgent screening needs.

Heterozygous carriers of δβ-thalassemia and HPFH showed significant variance in hematological parameters, underscoring genetic diversity.
Among 534 carriers, the most common deletions were Gγ(Aγδβ)°-thalassemia Siriraj I and δβ°-thalassemia Thai, comprising nearly 60% of cases.
Genotyping utilized Multiplex Gap-PCR, which effectively detected large deletions in the β-globin gene cluster among Malaysian patients.
The study calls for integrating molecular diagnostics into national screening programs to better manage thalassemia in Malaysia.

Hamid et al. (2025) studied this question.

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