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- W2604620351 abstract "We report a novel mutation on the α2-globin gene, Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T] detected in a Chinese family. This mutation gives rise to a previously undescribed hemoglobin (Hb) variant that was undetectable by electrophoretic or chromatographic methods. Hb Debao was associated with an α+-thalassemia (α+-thal) deletion [-α3.7 (rightward)] producing a mild phenotype with significant microcytosis and hypochromia, while the combination of this mutation with an α0-thal deletion (--SEA) resulting in a severe form of Hb H (β4) disease, which is consistent with a thalassemic phenotype associated with the novel mutation." @default.
- W2604620351 created "2017-04-14" @default.
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- W2604620351 date "2017-01-02" @default.
- W2604620351 modified "2023-10-11" @default.
- W2604620351 title "A Novel α2-Globin Gene Mutation: Hb Debao [α31(B12)Arg→Trp; HBA2: c.94A>T]" @default.
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- W2604620351 doi "https://doi.org/10.1080/03630269.2017.1289102" @default.
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