A Novel Alpha1‐Variant (HBA1:c.‐35T>C) Complexed With the First Reported Hb M‐Saskatoon in the Chinese Population

ABSTRACT Background Hemoglobinopathies are genetic disorders characterized by structural or quantitative hemoglobin abnormalities. We report the first documented case globally of a novel alpha1 (α1)‐variant (HBA1:c.‐35T>C) co‐occurring with Hb M‐Saskatoon (HBB:c.190C>T), the latter being identified...

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Autori principali:	Yujing Yang, Yunhu Zhao, Luan Luan, Guanghua Li, Qianyun Deng, Yanfen Ge
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2026-01-01
Serie:	Molecular Genetics & Genomic Medicine
Soggetti:	alpha‐variants cyanosis Hb M‐Saskatoon hemoglobin variants
Accesso online:	https://doi.org/10.1002/mgg3.70187
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