地中海贫血防控试点项目实施效果分析.

Objective To evaluate the implementation effect of the prevention and control project for thalassemia in Putian by analyzing the clinical and laboratory data related to screening and diagnosis of thalassemia in couples undergoing premarital examination. Methods The blood sample results of 62 058 newlywed couples and planned pregnant couples who participated in the premarital examination in Putian City, Fujian Province from April 2017 to December 2021 were retrospectively analyzed. The primary screening was carried out by detecting the average red blood cell volume and average hemoglobin content. When one of the couple was positive, the two sides were tested by hemoglobin（Hb） electrophoresis; When the couple’s Hb electrophoresis was positive, both parties shall performed thalassemia gene detection. The types of thalassemia gene mutations, the incidence of rare thalassemia, the distribution of mutations and the genetic characteristics of thalassemia gene in Putian City, Fujian Province were statistically analyzed, and the genetic map of thalassemia gene in Putian City, Fujian Province was drawn; Homotypic gene carrier and prenatal diagnosis were analyzed, and pregnancy outcomes were followed up. Results Among 62 058 couples, 8 938 had at least one abnormal partner during blood routine screening, and the positive rate of initial screening was 14. 40%. A total of 5 842 cases were Hb positive, the positive rate was 4. 71%. There were 413 couples with abnormal Hb electrophoresis. After gene detection, a total of 316 cases were diagnosed as thalassemia, and the diagnostic rate was 38. 26%. A total of 198 cases of α-thalassemia were detected, and the higher genotypes were--SEA/αα, -α3. 7/αα. A total of 114 cases of β-thalassemia were detected, and the higher genotypes were βIVS-Ⅱ-654/βN, βCD41-42/βN. Four cases of α complex β thalassemia were detected. Totally 26 high-risk couples with homologous thalassemia gene were detected, including 18 pairs of homologous α-thalassemia, eight pairs of homologous β-thalassemia. Among them, women in six couples received prenatal diagnosis, prenatal diagnosis results show that the normal fetus in two cases, --SEA/αα one case, βIVS-Ⅱ-654/βN two cases, --SEA/--SEA one case, including one pregnant woman of severe poverty choose termination. Conclusion The pilot project of prevention and control of poverty in Putian City of Fujian Province can effectively reduce the birth of severe thalassemia neonates, improve the quality of the born population in this area, and provide a basis for further development of thalassemia prevention and control plan. [ABSTRACT FROM AUTHOR]