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- W4323036610 abstract "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 (93.1%) value was below normal, while the Hb A2 (4.2%) and Hb F (2.7%) values were both beyond normal. A set of genetic tests of the α and β-globin genes were then performed to determine whether the subject carried any causative mutations. The results of NGS revealed a two-base pair deletion at position -89 to -88(HBB:c.-139_-138delAC）in the heterozygous state, which was subsequently confirmed by Sanger sequencing." @default.
- W4323036610 created "2023-03-04" @default.
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- W4323036610 date "2023-03-03" @default.
- W4323036610 modified "2023-10-16" @default.
- W4323036610 title "Novel Promoter Mutation (<i>HBB</i>:C.-139_-138del) Associated with β-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China" @default.
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- W4323036610 doi "https://doi.org/10.1080/03630269.2023.2182215" @default.
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