地中海贫血孕妇基因学诊断结果分析

Gene diagnosis analysis in pregnant women with thalassemia

目的分析贵州地区地中海贫血孕妇基因型检测结果。方法以近两年6 628例年龄为18~39岁贵州籍、孕周3个月孕妇作为研究对象,空腹真空采集静脉血2 m L注入乙二胺四乙酸二钾(EDTA-K_2)抗凝管,通过聚合酶链式反应(PCR)+反向斑点杂交法检测确认地中海贫血基因类型。结果 6 628例孕妇确认413例地中海贫血孕妇,其患病比率为6.23%。缺失型α-地中海贫血244例、突变型α-地中海贫血46例、突变型β-地中海贫血115例、αβ混合地中海贫血8例,分别占地中海贫血孕妇59.08%、11.14%、27.85%、1.94%,患病总比率为3.68%、0.69%、1.74%、0.12%。缺失型α-地中海贫血(-α^(3.7)、--^(SEA)、-α^(4.2))孕妇分别为145例、76例、23例。突变型α-地中海贫血(α^(CS)、α^(WS)、α^(QS)、-α^(4.2)/--^(SEA)、-α^(4.2)/α^(CS))孕妇分别为29例、11例、3例、2例、1例。突变型β-地中海贫血[CD41/42、CD17、IVS-Ⅱ-654、-28、βE、Cap+1、CD43、-29、CD14/15、CD27/28]孕妇分别为48例、26例、19例、8例、7例、2例、2例、1例、1例、1例。αβ混合地中海贫血(-α^(3.7)/CD17、--^(SEA)/CD17、α^(WS)/IVS-Ⅱ-654、--^(SEA)/CD41/42、-α^(3.7)/βE)孕妇分别为3例、2例、1例、1例、1例。结论贵州地区地中海贫血孕妇基因型特点为缺失型α-地中海贫血>突变型β-地中海贫血>突变型α-地中海贫血>αβ混合地中海贫血,其中缺失型α-地中海贫血主要为-α^(3.7)基因型、突变型β-地中海贫血主要为CD41/42基因型、突变型α-地中海贫血主要为α^(CS)基因型。

Objective The genotype test results of pregnant women with thalassemia in Guizhou areas was analyzed. 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 thalassemia 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% , O. 7% , 1.74% and 0. 11% , respectively, in all participants enrolled. Alpha thalassemia genotype - α3.7, - α4.2 and - SEA were detected in 145 , 76 and 23 pregnant women, respectively. Mutant alpha thalassemia genotype αCS , αQS, αWS , - OL4.2/ - - SEA and - α4.2/αCS were detected in 29, 11, 3, 2 and 1 pregnant women, respectively. The mutant beta thalassemia genotype CD41/42, CD17, IVS -II - 654, -28, β E, Cap＋1, CD43, -29, CD14/15 andCD27/28 were detectedin48, 26, 19, 8, 7, 2, 2, 1, 1 and 1 cases, respectively. Alpha beta mixed thalassemia genotype α37/CD17, -- SEA/cD17, SEA/IVS - 11 - 654, -SEA/ CD41/42 and -α 3.7/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.