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Article

Relative and Absolute Quantification of Aberrant and Normal Splice Variants in HBBIVSI-110 (G > A) β-Thalassemia.

International journal of molecular sciences - 11 Sept 2020

Patsali Petros, Papasavva Panayiota, Christou Soteroulla, Sitarou Maria, Antoniou Michael N, Lederer Carsten W, Kleanthous Marina

Abstract excerpt

The β-thalassemias are an increasing challenge to health systems worldwide, caused by absent or reduced β-globin (HBB) production. Of particular frequency in many Western countries is HBBIVSI-110(G > A) β-thalassemia (HGVS name: HBB:c.93-21G > A). Its underlying mutation creates an abnormal splice acceptor site in the HBB gene, and while partially retaining normal splicing of HBB, it severely reduces HBB protein...

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PMID: 32933098
DOI: 10.3390/ijms21186671
PMCID: PMC7555009

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Source receipt: pubmed, retrieved 7 Sept 2026.

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