Objective To explore on the result of thalassemia screening and genetic diagnosis for infants from Shandong region.

Methods Between July 2016 and December 2017, 16 098 cases of neonatal cord blood from the allogeneic bank were selected as subjects. Helena hemoglobin electrophoresis was used to determine hemoglobin in all cord blood. Genetic analysis was performed for cases with positive results for thalassemia.

Results Among the 16 098 cord blood samples, a total of 105 cases with abnormal hemoglobin were detected, with a positive screening rate of 0.65%. Genetic test results showed that 50 cases were diagnosed as α-thalassemia, 5 cases were diagnosed as β-thalassemia. The coincidence rates of α-thalassemia and β-thalassemia were 81.97% and 25%, respectively. In the genetic makeup of α-thalassemia, --^SEA/αα, -α^3.7/αα, and -α^4.2/αα accounted for the most, 0.10%, 0.16%, and 0.03%, respectively. In addition, --^Thai/αα, αCSα/αCSα, αQSα/αQSα were detected in one case each. Five cases of β -thalassemia were detected, all of which were β^CD26/β^N.

Conclusions Compared with the southern region, the incidence of thalassemia in Shandong is lower, and the types of thalassemia have certain regional characteristics.