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

Ya-Li Lei1, Yue-Mei Liang1, Qun Cao2

  • 1Clinical Laboratory, Dongguan Kanghua Hospital, Dongguan, People's Republic of China.

Hemoglobin
|September 22, 2021
PubMed

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.

Keywords:
Hb Jiujianghemoglobin (Hb) varianthemoglobinopathyα-globin chain

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