A New Hemoglobin Variant: Hb Jiujiang [alpha 18(A16)Gly -> Cys, HBA2: c.55G > T]

HEMOGLOBIN(2021)

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Abstract
We have identified a new alpha chain hemoglobin (Hb) variant in a Chinese subject. Sequencing of the alpha-globin gene revealed a mutation in exon 1 at nucleotide 55, which results in the replacement of a glycine by cysteine at codon 18 [alpha 18(A16)Gly -> Cys, HBA2: c.55G>T] that we have named Hb Jiujiang for the region of origin of the proband.
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alpha-globin chain, hemoglobin (Hb) variant, hemoglobinopathy, Hb Jiujiang
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