Identification of Two Novel Thalassemia Variants, HBA1: c.263delA and HBA2: c.376dupC, in Chinese Individuals. (2nd January 2021)

• Record Type: Journal Article
• Authors: Liu, Li; Sun, Yan; Chen, Shiping; Yu, Churen; Cao, Peijie; Sun, Jun; Peng, Zhiyu; Mao, Ping
• Is Part Of: Hemoglobin. Volume 45:Number 1(2021)
• Page Start: 49
• Page End: 51
• Publication Date: 2021-01-02
• Subjects: α-Globin gene -- α-thalassemia (α-thal) -- novel variants; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2021.1882483
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: We detected a novel frameshift variant ( HBA1 : c.263delA) and – – SEA (Southeast Asian), deletion in a 28-year-old Chinese woman with α-thalassemia (α-thal). This novel variant (a single nucleotide deletion at nucleotide 263 of codon 87) was detected by targeted next generation sequencing (NSG), resulting in a stop codon at amino acid 102 in exon 2 of the HBA1 gene. We also identified a novel heterozygous insertion ( HBA2 : c.376dupC) in a 24-year-old Chinese woman through screening for thalassemia. These two novel variants have expanded the mutation spectrum of α-thal and it would be beneficial for carrier screening, genetic counseling and prenatal diagnosis (PND) of α-thal.