A Novel Alpha1‐Variant (HBA1:c.‐35 <scp>T</scp> >C) Complexed With the First Reported Hb M‐Saskatoon in the Chinese Population
We confirmed Hb M-Saskatoon (HBB:c.190C>T) co-occurring with a globally unreported α1-variant (HBA1:c.-35T>C) in a Chinese proband. This dual variant expands the global hemoglobinopathy registry and provides critical insights for diagnosing atypical cases, particularly in populations with understudied genetic diversity. This finding elucidates novel genotype-phenotype correlations in complex hemoglobinopathies and underscores the imperative of genetic testing for atypical presentations.
Authors
- Qianyun Deng (ORCID: https://orcid.org/0009-0003-4232-728X)
- Yujing Yang
- Luan Luan (ORCID: https://orcid.org/0000-0002-2173-2177)
- Yunhu Zhao
- Yanfen Ge
- Guanghua Li
Institutions
- Xuzhou Medical College (CN)
- Guangdong Academy of Medical Sciences (CN)
- Guangdong Provincial People's Hospital (CN)
- Southern Medical University (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2026-01-01
- DOI
- https://doi.org/10.1002/mgg3.70187
- Citations
- 1
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 36.93
Funders
- National Natural Science Foundation of China
- Basic and Applied Basic Research Foundation of Guangdong Province