A novel polyadenylation signal variant NM_000517.6 (<i>HBA2</i>): c.*92_*97delinsTA causing α-thalassemia in two Chinese families

<h4>Introduction</h4>Thalassemia, the most prevalent recessive genetic disorder in China, predominantly affects the southern coastal regions. 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. The proband's father and paternal grandmother in Family 1 and a pregnant woman in Family 2 exhibited hematological phenotypes. NGS confirmed that all four individuals were heterozygous carriers of NM_000517.6(HBA2):c.*92_*97delinsTA.<h4>Discussion</h4>This novel variant expands the genetic spectrum of α-thalassemia.