A New Hemoglobin Variant: Hb Jiujiang [α18(A16)Gly→Cys, HBA2: c.55G>T].

Ya-Li Lei, Yue-Mei Liang, Qun Cao, Hong Sui, Dong-Zhi Li

Hemoglobin 2021 Jul

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We have identified a new α chain hemoglobin (Hb) variant in a Chinese subject. Sequencing of the α-globin gene revealed a mutation in exon 1 at nucleotide 55, which results in the replacement of a glycine by cysteine at codon 18 [α18(A16)Gly→Cys, HBA2: c.55G>T] that we have named Hb Jiujiang for the region of origin of the proband.

Citation

Ya-Li Lei, Yue-Mei Liang, Qun Cao, Hong Sui, Dong-Zhi Li. A New Hemoglobin Variant: Hb Jiujiang [α18(A16)Gly→Cys, HBA2: c.55G>T]. Hemoglobin. 2021 Jul;45(4):254-255