Identification of a Novel β-Thalassemia Mutation at Codon 130 (+T) (: c.391insT) in Han Chinese.

β-Thalassemia (β-thal) is an inherited blood disorder characterized by reduced or absent synthesis of the β chains of hemoglobin (Hb). Although more than 900 β-globin gene mutations around the world have been identified, here we report a novel mutation detected in a Chinese subject of Han ethnicity. This allele develops by insertion of one nucleotide (+T) at codon 130 (: c.391insT) in the third exon of the β-globin gene. The mutation causes a frameshift that leads to a termination codon at codon 139. The identification of the novel mutation will facilitate future diagnosis of β-thal and will also be useful the genetic counseling and prenatal diagnosis.