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

Introduction 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. Methods 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. Results We report a novel HBA2 mutation [NM_000517.6 ( HBA2 ): 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. Discussion This novel variant expands the genetic spectrum of α-thalassemia.