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目的了解三亚地区早期妊娠孕妇地中海贫血流行现状及其突变基因类型,进而从地区层面帮扶实施有效防控措施,实现优育优生可能。方法对三亚地区1000例早期妊娠孕妇的血常规、CRP和血红蛋白电泳结果进行回顾性分析,判断其是否患有地中海贫血以及所属基因类型。对α-地中海贫血者用gap-PCR方法进行基因诊断,而β-地中海贫血者则用PCR-RDB方法。结果地中海贫血发病率为11.5%(115/1000),基因诊断阳性率为9.7%(97/1000)。在97例经基因诊断并确诊为地中海贫血的早期妊娠孕妇中,α-地中海贫血63例,β-地中海贫血31例,α合并β地中海贫血3例。其中,63例α-地中海贫血早期妊娠孕妇中,--~(SEA)/αα型为35例,-α~(4.2)/αα型为17例,Hb H病为4例;31例β-地中海贫血早期妊娠孕妇中共检出7个基因位点发生突变,突变频率依次为CD41-42(-CTTT)13例,IVS-Int 654(C→T)5例,TATAbox-28(A→G)4例,CD14-15(+G)3例,CD17(A→T)3例,CD71-72(+A)2例,CD27-28(+C)1例。结论三亚地区早期妊娠地中海贫血发病率较高,加大宣传力度、开展遗传咨询、完善早孕筛查及产前基因诊断,对优育优生和确保地区全面发展战略人才具有重要意义。
Objective To understand the epidemiological status of thalassemia and the types of mutations in early pregnant women in Sanya, and to help implement the effective prevention and control measures from the regional level so as to realize the possibility of giving birth to eugenics. Methods The blood routine, CRP and hemoglobin electrophoresis of 1000 pregnant women in early pregnancy in Sanya area were retrospectively analyzed to determine whether they had thalassemia and their genotypes. Gap-PCR was used for genetic diagnosis of alpha-thalassemia and beta-thalassemia was used for PCR-RDB. Results The prevalence of thalassemia was 11.5% (115/1000), and the positive rate of gene diagnosis was 9.7% (97/1000). Among 97 early pregnant women diagnosed as having thalassemia by gene diagnosis, 63 cases of α-thalassemia, 31 cases of β-thalassemia, and 3 cases of α-thalassemia intermedia. Among 63 pregnant women with α-thalassemia, 35 were - SEA / αα, 17 were α-4.2 / αα, 4 were Hb H and 31 were β- In the first trimester of thalassemia, seven loci were found in the pregnant women. The mutation frequency was 13 cases of CD41-42 (-CTTT), 5 cases of IVS-Int 654 (C → T), TATAbox-28 (A → G) 4 cases, 3 cases of CD14-15 (+ G), 3 cases of CD17 (A → T), 2 cases of CD71-72 (+ A) and 1 case of CD27-28 (+ C). Conclusion The prevalence of thalassemia in early pregnancy is high in Sanya. To increase publicity, carry out genetic counseling, improve early screening and prenatal genetic diagnosis are of great significance to the development of excellent students and ensuring the overall development of strategic talents in the area.