A novel 811 bp deletion was first identified in two families of Nanning City, Guangxi Zhuang Autonomous Region, People's Republic of China (PRC). The molecular basis of this anomaly is a deletion from NG_000006.1: g.32945_33755, and is 20 bp upstream of the translation initiation codon of HBA2. From analyses of the blood indices of the two probands, the 811 bp deletion is an α+-thalassemia (α+-thal). This is the first report of this deletional thalassemia anywhere in the world.
Keywords: novel deletion; thalassemia; α+-Thalassemia (α+-thal).