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LIU Rui, ZHU Na, LUO Meng, et al. Screening and genetic diagnosis of infant thalassemia in Shandong province[J]. Chin J Clin Med, 2020, 27(6): 1043-1045. DOI: 10.12025/j.issn.1008-6358.2020.20201075
Citation: LIU Rui, ZHU Na, LUO Meng, et al. Screening and genetic diagnosis of infant thalassemia in Shandong province[J]. Chin J Clin Med, 2020, 27(6): 1043-1045. DOI: 10.12025/j.issn.1008-6358.2020.20201075

Screening and genetic diagnosis of infant thalassemia in Shandong province

More Information
  • Received Date: May 11, 2020
  • Accepted Date: July 23, 2020
  • 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, -α3.7/αα, and -α4.2/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 βCD26N.

    Conclusions 

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

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