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    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.


    Li Liu, Yan Sun, Shiping Chen, Churen Yu, Peijie Cao, Jun Sun, Zhiyu Peng, Ping Mao. Identification of Two Novel Thalassemia Variants, HBA1: c.263delA and HBA2: c.376dupC, in Chinese Individuals. Hemoglobin. 2021 Jan;45(1):49-51

    PMID: 33792465

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