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Novel Promoter Mutation (HBB:C.-139_-138del) Associated with β-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China.

Hemoglobin - 1 Jan 2023

Pan Lei, Tian Peirun, Chen Shiping, Zhang Rui

Abstract excerpt

Here we report a novel β-globin gene mutation in the promoter (HBB:c.-139_-138delAC) detected by next-generation sequencing (NGS). The proband was a 28-year-old Chinese male, living in Shenzhen City, Guangdong Province, who originates from Hunan Province. The red cell indices were almost normal, with a slightly decreased Red Cell volume Distribution Width(RDW). Capillary electrophoresis (CE) showed the Hb A...

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PMID: 36866928
DOI: 10.1080/03630269.2023.2182215

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