Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang (: c.393delT).

We report a frameshift mutation in exon 3 of the β-globin gene that leads to a β-thalassemia (β-thal) intermedia (β-TI) phenotype in a 6-year-old Chinese boy. This novel mutation with deletion of the last nucleotide (-T) at codon 130 results in a β-globin chain that is extended to 156 amino acid residues. This study highlights the importance of considering dominantly inherited β-thal in the investigation of anemia, even in patients with ethnic backgrounds not usually associated with β-thal and hematologically normal parents.