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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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Principais autores: Yujing Yang, Yunhu Zhao, Luan Luan, Guanghua Li, Qianyun Deng, Yanfen Ge
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2026-01-01
Serier:Molecular Genetics & Genomic Medicine
Fag:
alpha‐variants
cyanosis
Hb M‐Saskatoon
hemoglobin variants
Online adgang:https://doi.org/10.1002/mgg3.70187
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