Gene diagnosis analysis in pregnant women with thalassemia

WANG Fei-qing; LI Yan-ju; LI li; AN Shi-gang; LIU Yan-qing; PENG Feng-tao; ZHOU Yuan; LIU Yang

doi:10.3969/j.issn.1001-9448.2018.02.014

Abstract：Objective The genotype test results of pregnant women with thalassemia in Guizhou areas was ana -lyzed.Methods From 2016 to 2017,6 628 pregnant women,who aged 18-39 years in Guizhou with 3-month preg-nancy,were enrolled.Fasting venous blood(2ml)was vacuum collected.The thalassemia genotypes were detected with PCR and flow-through hybridization.Results Among 6628 pregnant women, there were 413 cases of thalassemia with the prevalence rate of 6.23%.Alpha thalassemia,mutant alpha thalassemia,mutant beta thalassemia and mixed thalasse-mia were detected in 244,46,115 and 8 cases, respectively; which accounted for 59.08%, 11.14%, 27.85% and 1.93%,respectively,in pregnant women with thalassemia and 3.68%,0.7%,1.74%and 0.11%,respectively,in all participants enrolled.Alpha thalassemia genotype -α3.7, -α4.2and --SEA were detected in 145,76 and 23 pregnant women,respectively.Mutant alpha thalassemia genotype αCS,αQS,αWS, -α4.2/--SEA and -α4.2/αCS were detected in 29,11,3,2 and 1 pregnant women, respectively.The mutant beta thalassemia genotype CD 41/42, CD17, IVS-II-654, -28,βE,Cap+1,CD43, -29,CD14/15 and CD27/28 were detected in48,26,19,8,7,2,2,1,1 and 1 cases,respectively.Alpha beta mixed thalassemia genotype α3.7/CD17, --SEA/CD17, αWS/IVS-Ⅱ-654, --SEA/CD41/42 and -α3.7/βE were detected in 3,2,1,1 and 1 cases,respectively.Conclusion The predominant genotypes in pregnant women with thalassemia are followed as gene defect alpha thalassemia, mutant type beta thalassemia,mutant alpha thalassemia and alpha beta mixed thalassemia.The predominant genotype in defect alpha thalassemia is -α3.7, in mutant beta thalassemia is CD41/42,and in mutant alpha thalassemia major is αCS.