<i>HBA2</i> : C.4delG: A Novel Frameshift Mutation Causing α <sup>+</sup> -Thalassemia Found in a Chinese Family
We report a novel α-thalassemia (α-thal) point mutation identified in a Chinese man with mild hypochromia and microcytosis during premarital thalassemia screening. Sanger sequencing identified a frameshift variant (<i>HBA2</i>:c.4delG) at codon 1 (deletion of G) in the first exon of the α2-globin gene. This genetic alteration produces a truncated α-globin chain with a premature termination codon at position 48, leading to an α<sup>+</sup>-thalassemia phenotype. Pedigree analysis confirmed the mutation was inherited from the paternal lineage.
Authors
- Lizhuan Zhang
- Wei Li (ORCID: https://orcid.org/0009-0007-4859-0387)
- Guanyu Wei (ORCID: https://orcid.org/0009-0000-1409-4325)
- Shengwei Ren (ORCID: https://orcid.org/0000-0002-4436-1102)
- Yuanyuan Huang (ORCID: https://orcid.org/0009-0006-1631-8322)
- Xuan Luo (ORCID: https://orcid.org/0000-0002-4726-923X)
- Zhi Xie (ORCID: https://orcid.org/0000-0001-6214-1536)
- Dejian Yuan (ORCID: https://orcid.org/0000-0001-9884-2158)
Institutions
- Liuzhou Maternal and Child Health Hospital (CN)
- Guangzhou Women and Children Medical Center (CN)
- Fourth Affiliated Hospital of Guangxi Medical University (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- Hemoglobin
- Published
- 2025-07-04
- DOI
- https://doi.org/10.1080/03630269.2025.2523030
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Guangxi Province