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Hb Qinzhou [α1 78 (EF7) Asn→Lys (AAC>AAA); HBA1:c.237C>A]: a Novel α-Globin Variant in a Chinese Family.

Clinical laboratory - 1 May 2023

Lao Zhongchan, Ding Gengcai, Yang Fengjuan, Liang Liang, Li Youqiong

Abstract excerpt

BACKGROUND: Many new variants are constantly detected by capillary electrophoresis (CE) and high-performance liquid chromatography (HPLC). Here, we described a novel α-globin gene mutation. METHODS: The proband was a 46-year-old male who came to the hospital with his wife for pre-conception thalassemia screening. Hematological parameters were obtained from a complete blood count. Hb analysis was performed by CE...

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PMID: 37145073
DOI: 10.7754/Clin.Lab.2022.220921

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