摘要
目的调查莆田地区孕妇地中海贫血基因类型及分布情况。方法对2014年1月至2015年12月在我院门诊产检的5 618例孕妇进行血常规筛查,经MCV、MCH初步筛查后,阳性指征者进行基因分析。结果 5 618例孕妇中,130例确诊为地中海贫血,比例为2.31%。α地中海贫血共检出5种基因型,最常见基因型为——SEA(62例),占比47.69%;—α3.7(13例),占比10.0%。β地中海贫血50例,比例为0.91%,共检出7种基因型,最常见的有IVS-II-654/N(28例)占比21.54%、CD41-42/N(10例)占比7.69%和CD17/N(5例)占比3.84%。结论明确莆田地区地中海贫血分布规律,加强产前筛查和诊断,预防重型地中海贫血患儿出生,提高人口素质。
Objective To investigate the genotypes of Mediterranean anemia and the distribution situation of pregnant women in putian region. Methods 5 618 cases who took the pregnancy check-ups in the outpatient clinic of our hospital were filtrated based on Blood-RT. According to the result of preliminary screening of MCV and MCH, Gene analysis of cases with positive indication were un-dertaken. Results Among 5 618 cases of pregnant women, 130 cases were diagnosed with the Mediterranean anemia, accounting for 2. 31%. 5 genotypes were detected of α Mediterranean anemia, among which ———SEA （62 cases） is the most common genotype ac-counting for 47. 69%, —α3. 7 （13 cases） accounting for 10. 0%. There were 50 cases of β Mediterranean anemia, accounting for 0. 91%. A total of 7 genotypes were detected. The most common one is IVS - II - 654 / N （28 cases） accounting for 21. 54%, CD41-42 / N （10 cases） accounting for 7. 69% and CD17 / N （5 cases） accounting for 3. 84%. Conclusion Make the distribution regularities of the Mediterranean anemia in putian region clear, strengthen the prenatal screening and diagnosis, prevent the birth of infants with heavy Mediterranean anemia and improve population quality.
作者
林华
俞柳敏
林素霞
王志萍
LIN Hua YU Liumin LIN Suxia WANG Zhiping(Department of laboratory, Affiliated Hospital of Putian Institute, Putian 351100 China)
出处
《辽宁医学院学报》
CAS
2016年第5期74-76,I0007,共4页
Journal of Liaoning Medical University (LNMU) Bimonthly
关键词
地中海贫血
产前筛查
基因诊断
the Mediterranean anemia
prenatal screening
genetic diagnosis
