Accurate detection of α-globin gene copy number variants with two reactions using droplet digital PCR

• Published in: Hematology (Luxembourg) Vol. 27; no. 1; pp. 198 - 203
• Main Authors: Bao, Xiuqin, Qin, Danqing, Ma, Jian, Zhou, Xiangcheng, Wang, Jicheng, Yao, Cuize, Zhang, Liang, Du, Li
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 31.12.2022; Taylor & Francis Group
• Subjects: alpha-Globins - genetics; alpha-Thalassemia - genetics; beta-Thalassemia - genetics; Copy number variants; deletion; DNA Copy Number Variations; droplet digital PCR; Gene Dosage; Humans; Polymerase Chain Reaction - methods; triplication; α-globin gene; triplication; deletion; droplet digital PCR; α-globin gene; Copy number variants

The α-thalassemia is a highly prevalent disease in tropical and subtropical regions, including southern China, and is mainly caused by deletion in α-globin genes (HBA1 and HBA2). The clinical manifestation of α-thalassemia is highly correlated with the copy number of α-globin genes. The decrease in...