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This research aims to elucidate the genetic basis of severe β-thalassemia in a transfusion-dependent proband.

December 11, 2025Hemoglobin

Identification of a Patient with Transfusion-Dependent β-Thalassemia Caused by Compound Heterozygous Mutations of HBB: C. 84₈5insC and Common Linked Intronic Variants in HBB

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Case report reveals compound heterozygous mutation in HBB linked to severe β-thalassemia, suggesting prenatal diagnosis opportunities.

This research aims to elucidate the genetic basis of severe β-thalassemia in a transfusion-dependent proband.
Case study of a transfusion-dependent β-thalassemia patient
Utilization of whole-genome sequencing (WGS)
Identification of compound heterozygous mutations in HBB
Proband carries known mutation HBB:c.84_85insC along with intronic variants
Elevated HbF level of 73.6% observed
Study expands the understanding of β-thalassemia's phenotypic diversity and genetic counseling implications.

Qin et al. (2025) studied this question.

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