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A Novel Frameshift Mutation of HBB Causing Dominant β-Thalassemia in a Chinese Individual.

Hemoglobin - 1 May 2024

Yao Cuili, Chen Long, Ma Jingting, Li Na, Lin Jiang, Huang Lina, Lin Yani, Xue Jun

Abstract excerpt

We reported a rare β-thalassemia patient, a 41-year-old Chinese male with small cell hypopigmentation anemia, jaundice and splenomegaly as the main clinical symptoms. By using Next-Generation Sequencing (NGS), we identified a novel de novo HBB mutation(c.358_365dup, p.Phe123Alafs*39) which resulted in an abnormally prolonged β-globin chain comprising 159 amino acid residues. The secondary and three-dimensional...

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PMID: 39103314
DOI: 10.1080/03630269.2024.2376588

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