alpha(+)-Thalassemia Caused by an 811bp Deletion in Individuals from Nanning, Guangxi: A Report of Two Cases

摘要

A novel 811bp 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 20bp upstream of the translation initiation codon of HBA2. From analyses of the blood indices of the two probands, the 811bp deletion is an alpha(+)-thalassemia (alpha(+)-thal). This is the first report of this deletional thalassemia anywhere in the world.