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- Title
2 376 例地中海贫血基因筛查结果分析.
- Authors
王云娟; 张艳亮; 徐秋月; 赵 滢; 胡赵武; 苏 洋
- Abstract
Objective To investigate the positive rate, gene mutation type and distribution characteristics of thalassemia gene screening patients in the First Affiliated Hospital of Kunming Medical University. Methods A retrospective analysis was made on 2 376 cases of thalassemia gene screening patients in the First Affiliated Hospital of Kunming Medical University from April 1, 2017 to December 31, 2018. The parameters of thalassemia gene and blood cell analysis (Hb,MCV,MCH,RDW) were statistically analyzed. Results (1) Among 2 376 cases of thalassemia gene screening,817 were positive for thalassemia gene,the positive rate was 34.39%,of which 392 cases were positive for α thalassemia gene,accounting for 47.98% of the total positive samples;398 were positive samples of βthalassemia gene,accounting for 48.71% of the total positive samples;27 cases were αβcompound thalassemia gene positive samples,accounting for 3.30% of the total positive samples. (2) 392 positive samples of αthalassemia gene were αα/--SEA、αα/-α3.7、αα/ααCS、αα/-α4.2 and -α3.7/--SEA genotypes, accounting for 50.51%,32.91%,4.34%,3.57% and 2.55%,respectively;CD26,CD41-42,CD17,IVS II654,nt28 genotypes were the main positive samples of β thalassemia gene,accounting for 25.38%,23.37%, 20.60%,20.60% and 3.27% of thalassemia gene. Conclusion The incidence rate of thalassemia in Yunnan is still high,of which CD26 is the largest in beta thalassemia,which is totally different from that in other provinces and cities in China.
- Publication
Journal of Kunming Medical University / Kunming Yike Daxue Xuebao, 2021, Vol 42, Issue 1, p68
- ISSN
2095-610X
- Publication type
Article
- DOI
10.12259/j.issn.2095-610X.S20210130