Identification of a novel 145 kb deletion (Guigang deletion, -

To describe a novel α-thalassemiadeletion identified from a newborn by third-generation sequencing (TGS). The proband, a newborn subject to neonatal capillary electrophoresis (CE) screening, exhibited suspected α We reported a novel α-thalassemiadeletion and provided insights into the hematological phenotype and molecular analysis. These findings have implications for genetic counseling and prenatal diagnosis.