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- W4309661803 abstract "More than 1300 mutations which lead to abnormal hemoglobin (Hb) have been recorded in the HbVar database. Hb Ty Gard has rarely been reported and has not been reported in China.A 2-year-old Chinese girl was healthy with normal physical development and hematological parameters. Capillary electrophoresis suggested that Hb F increased slightly, while Hb A2 levels were normal. Flow cytometry, fluorescence hybridization, and Sanger sequencing were used to characterize the genotypes. Sanger sequencing detected a heterozygous mutation at codon 124 of the β-globin gene (HBB: c.374 C > A), which was previously reported as Hb Ty Gard in the HbVar database.We report the first case of HbTy Gard in a Chinese population. In areas with a high incidence of Hb diseases, sensitive detection of Hb components and accurate diagnosis of Hb variation are very important, and the combined application of capillary electrophoresis and gene sequencing can diagnose more Hb variants." @default.
- W4309661803 created "2022-11-29" @default.
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- W4309661803 date "2022-11-18" @default.
- W4309661803 modified "2023-09-26" @default.
- W4309661803 title "First report of a Chinese patient carrying Hb Ty Gard: A case report" @default.
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- W4309661803 doi "https://doi.org/10.1097/md.0000000000031902" @default.
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