A New Hemoglobin Variant: Hb Jiujiang [α18(A16)Gly→Cys, HBA2: c.55G>T]. (4th July 2021)

• Record Type: Journal Article
• Authors: Lei, Ya-Li; Liang, Yue-Mei; Cao, Qun; Sui, Hong; Li, Dong-Zhi
• Is Part Of: Hemoglobin. Volume 45:Number 4(2021)
• Page Start: 254
• Page End: 255
• Publication Date: 2021-07-04
• Subjects: α-globin chain -- hemoglobin (Hb) variant -- hemoglobinopathy -- Hb Jiujiang; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2021.1980401
• Languages: English
• ISSNs: 0363-0269

Abstract

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.