A rare −α <sup>27.6</sup> deletion compounded with the hemoglobin constant spring mutation identified in a Chinese couple
The -α<sup>27.6</sup>/α<sup>CS</sup>α case and related manifestations were first reported here expanding the gene spectrum of thalassemia. Such genotype can be misdiagnosed as α<sup>CS</sup>α/α<sup>CS</sup>α causing inaccurate estimations of thalassemia risk. To avoid these misdiagnoses, genetic tests for deletions in the related regions were advised when inconsistencies between the genotype and the phenotype were discovered.
Authors
- Liyi Liu (ORCID: https://orcid.org/0009-0001-1858-1961)
- Zihan Xiu
- Min Long (ORCID: https://orcid.org/0000-0003-1071-8131)
- Xiao Yan (ORCID: https://orcid.org/0000-0001-7626-2128)
- Yu-Chen Chen (ORCID: https://orcid.org/0000-0002-9038-5324)
- Wei Li (ORCID: https://orcid.org/0000-0003-0769-5805)
- Zhen Guo (ORCID: https://orcid.org/0000-0003-4875-5149)
- Jing Zhang (ORCID: https://orcid.org/0000-0002-7290-8304)
- Shanmei Zeng (ORCID: https://orcid.org/0000-0003-3644-6568)
- Min Zhang
Publication Details
- Journal
- Hematology
- Published
- 2025-04-11
- DOI
- https://doi.org/10.1080/16078454.2025.2485694
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Medical Science and Technology Foundation of Guangdong Province