Objective To understand the genotype and distribution characteristics of thalassemia genes in the childbearing age population through analyzing the results of genetic screening in our hospital, which will provide the laboratory evidence for the primary and secondary prevention of thalassemia in Northeast Sichuan area.Methods A retrospective analysis was done on the results of 3089 childbearing age persons, who conducted the genetic testing of thalassaemia, blood routine, and hemoglobin electrophoresis in our hospital during 2023. Rare thalassemia gene sequencing was performed on those who with negative results of thalassemia gene but having abnormal results of blood routine or/and hemoglobin electrophoresis. The HKɑɑand α-globin gene triplet testing was conducted for 22 samples with the genotype of -ɑ3.7/ɑɑ, while the results of blood routine and hemoglobin electrophoresis were normal. Results 370 carriers were detected in 3089 specimens, with a positive rate of 11.98% (370/3089), among them 194 cases (52.43%) were ɑ-thalassemia and 166 cases (44.86%) were β-thalassemia. The most common genotypes were--SEA/ɑɑ,-ɑ3.7/ɑɑ,βCD41-42M/βN,βCD17M/βN and βIVS-II-654M/βN.One ɑɑɑ anti4.2,one β IVS-II-654M , four δ-thalassemia, one δ-thalassemia complex with nd-HPFH, three structurally abnormal hemoglobin and one benign mutation of HBB gene were sequenced by the Rare thalassemia gene testing. Four cases of HKɑɑ were tested by PCR method from 22 specimens. Conclusion The rate of thalassemia gene carrying is relatively high among the childbearing age population in this region, and the genotypes are complex. Therefore, more attention should be paid to rare thalassemia gene testing, and HKɑɑ detection