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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Үндсэн зохиолчид:	Yujing Yang, Yunhu Zhao, Luan Luan, Guanghua Li, Qianyun Deng, Yanfen Ge
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Wiley 2026-01-01
Цуврал:	Molecular Genetics & Genomic Medicine
Нөхцлүүд:	alpha‐variants cyanosis Hb M‐Saskatoon hemoglobin variants
Онлайн хандалт:	https://doi.org/10.1002/mgg3.70187
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!