三亚地区早期妊娠地中海贫血流行现状及其基因型分析  

Prevalent state and genotyping of thalassemia in early pregnancy from Sanya district

作　　者：石秀凤[1] 林明影 陈求珠 王丹[1] 陈爱华[1] 赵玉梅[1] 

机构地区：[1]海南省三亚市妇幼保健院,海南三亚572000

出　　处：《中国优生与遗传杂志》2017年第8期27-29,53,共4页Chinese Journal of Birth Health & Heredity

摘　　要：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 study the prevalent state and genotyping of thalassemia in early pregnancy from Sanya district so that support the implementation of effective prevention and control measures from regional level in order to achieve good example health. Methods：1000 cases of early pregnancy come from Sanya district,whom blood routine,CRP and hemoglobin electrophoresis results were retrospectively analyzed.Then to estimate whether they with thalassemia or not and belongs to gene types.The alpha thalassaemia women diagnosed by gap-polymerase chain reaction（gap-PCR）,while the beta thalassaemia ones diagnosed by polymerase chain reaction（PCR）-reverse dot blot（RDB）. Results：Mediterranean anemia incidencing rate was 11.5%（115cases）,and genetic diagnosis positive rate was 9.7%（97 cases）. In 97 cases of the gene diagnosis in women were diagnosed with Mediterranean anemia,alpha thalassaemia 63 cases,31 cases of beta thalassaemia and alpha beta thalassaemia merger in 3cases. Among them,63 cases of alpha thalassaemia in women with type-SEA/alpha alpha for 35 cases,alpha 4.2/alpha alpha in 17 cases,Hb H disease for 4 cases. And 31 cases of beta thalassaemia women checked out seven gene locus mutation and the mutation frequency in the order of CD41-42（-CTTT）13cases,IVS-Int 654（C→T）5cases,TATAbox-28（A→G）4cases,CD14-15（＋G）3 cases,CD17（A→T）3cases,CD71-72（＋A）2cases and CD27-28（＋C）1case. Conclusion：High prevalence of Sanya district mediterranean anemia in early pregnancy,so increasing propaganda ram,opening genetic counseling,improving the pregnancy screening and prenatal gene diagnosis for good example eugenics and ensure regional overall development strategy of talents have a great significance.

关 键 词：三亚地区 地中海贫血 早期妊娠 流行病学 基因型分析 

分 类 号：R714.254[医药卫生—妇产科学]