HBA2 and thalassemia: The mutational spectrum of α-thalassemia (α-thal) continues to expand with advances in detection technologies.<h4>Methods</h4>Fetal DNA was extracted from amniotic fluid samples of the pregnant woman in Family 1 via amniocentesis, and next-generation sequencing (NGS) was used to detect the genetic variant in the participants.<h4>Results</h4>We report a novel <i>HBA2</i> mutation [NM_000517.6 (<i>HBA2</i>): c.*92_*97delinsTA] in the polyadenylation [poly(A)] site identified in two unrelated Chinese families.