Screening of population with β-thalassemia mutation and analysis of functional mutation of KLF1 in Gaoming District, Foshan City
CHEN Hanghua1 ZHANG Yu2 LIU Cuixian2 HE Qingrong1
1.Department of Obstetrics and Gynecology, Gaoming District People′s Hospital Affiliated to Guangdong Medical University, Guangdong Province, Foshan 528500, China;
2.Department of Clinical Laboratory, Gaoming District People′s Hospital of Affilated Guangdong Medical University, Guangdong Province, Foshan 528500, China
Abstract：Objective To analyze the mutation spectrum and carrier frequency of β-thalassemia in Gaoming District, Foshan City, and the relationship between functional mutation carriers of KLF1 gene and increased fetal hemoglobin (HbF) level was also analyzed. Methods From January 2017 to October 2018, peripheral blood of pregnant women in Gaoming District People′s Hospital Affiliated to Guangdong Medical University was collected for prenatal screening of thalassemia. Gene diagnosis and phenotypic- genotype analysis were performed for phenotypic positive samples. All poor carriers were screened for KLF1 mutations. Results A total of 5318 pregnant women were screened and 1387 cases were found to be positive for hematological phenotype. Subsequent molecular diagnosis identified 649 cases of geodesic poor gene carriers, of which 246 cases were geodesic poor carriers, and 4 cases were carrying KLF1 mutations, with significantly higher HbF levels than non-carriers(P ＜ 0.01). 498 of the spouses were recalled for genetic diagnosis, of which 87 cases were positive for destitute gene, of which 32 cases were carriers of destitute mutation. Seven couples were at high risk for children born in moderate and heavy poverty areas. In the prenatal diagnosis of fetal genotype in 7 pregnant women, 3 cases were identified as medium and heavy fetuses. Conclusion In this study, the low-fertility mutation screening and epidemiological investigation were carried out on the pregnant screening population in this area, and the low-fertility carrying rate in Gaoming District counted under a certain sample space, and the phenomenon that KLF1 functional mutation was significantly correlated with the increase of HbF was verified.
陈航华1 张宇2 刘翠娴2 贺青蓉1. 佛山市高明区孕检人群β-地中海贫血突变筛查及KLF1功能突变分析[J]. 中国医药导报, 2020, 17(3): 17-21.
CHEN Hanghua1 ZHANG Yu2 LIU Cuixian2 HE Qingrong1. Screening of population with β-thalassemia mutation and analysis of functional mutation of KLF1 in Gaoming District, Foshan City. 中国医药导报, 2020, 17(3): 17-21.
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2020, Vol. 17 
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