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

Hemoglobin. 2021 Jul;45(4):254-255. doi: 10.1080/03630269.2021.1980401. Epub 2021 Sep 21.

Abstract

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 Jiujiang; hemoglobin (Hb) variant; hemoglobinopathy; α-globin chain.

Publication types

  • Case Reports

MeSH terms

  • Codon
  • Cysteine*
  • Glycine / genetics
  • Hemoglobin A2 / genetics
  • Hemoglobins, Abnormal* / genetics
  • Humans
  • alpha-Globins / genetics

Substances

  • Codon
  • Hemoglobins, Abnormal
  • alpha-Globins
  • Hemoglobin A2
  • Cysteine
  • Glycine