中国福建泉州地区育龄女性地中海贫血流行病学研究

Epidemiological Survey of Thalassemia in Women of childbearing age in Quanzhou Area of Fujian Province in China

目的:了解福建泉州地区育龄女性地中海贫血的携带率,研究相关基因突变类型和分布特征。方法:应用分群整群抽样法随机抽取泉州市各县市育龄女性的静脉血,以平均红细胞体积(MCV)和平均红细胞血红蛋白含量(MCH)进行筛查,对阳性者采用跨越断裂点PCR(gap-PCR)技术和反向点杂交技术(RDB)进行基因检测,检测阴性者外送测序检测罕见基因突变。结果:7 082例调查对象中共发现确诊地中海贫血384例,总携带率为5.42%。α、β地中海贫血的携带率分别为3.21%和2.15%,其中α地中海贫血基因突变以--^(SEA)/αα为主,占比68.72%,并含有2例--^(THA)I/αα和1例αα/ααα^(anti3.7)罕见基因类型。β地中海贫血基因突变以IVSⅡ-654(C→T)/N和CD41-42(-TTCT)/N为主,总和占比75.00%。同时检测出5例α、β复合型地中海贫血。结论:泉州地区地中海贫血基因携带率较高,且以--^(SEA)/αα、IVSⅡ-654(C→T)/N、CD41-42(-TTCT)/N为主要突变类型。该结果对临床遗传咨询和产前基因诊断筛查地中海贫血有一定参考价值。

Objective:To investigate the gene prevalence and spectrum of thalassemia in the women of childbearing age in quanzhou area.Methods:Venous blood of the women were collected for study,all subjects were registered in each county of quanzhou area by using cluster sampling.Both the mean corpuscular volume(MCV)and mean corpuscular hemoglobin(MCH)were used for screening thalassemia.Genotyping of the screened positive samples was performed by gap single polymerase chain reaction(gap-PCR)and reverse dot blot(RDB)hybridization.Unknown positive samples were analyzed with DNA sequencing.Results:Out of all 7 082 samples,Three hundred and eighty four were identified as thalassemia gene carriers with a carrying rate of 5.42%.Theαandβthalassemia were 3.21%and 2.15%respectively.--SEA/ααwas the most common genotype with 68.72%in mutation types ofαthalassemia,In addition gene,2 cases of--THAI/ααand 1 case ofαα/αααanti3.7 were also detected.IVS-Ⅱ-654/N and CD41-42/N were the most common gentypes with 75.00%in mutation types ofβthalassemia gene,5 cases were found to beαβcompogite thalassemia.Conclusion:The carrying rate of thalassemia gene in quanzhou area is higher,and with the most common gentypes including--SEA/αα、IVSⅡ-654(C→T)/N and CD41-42(-TTCT)/N.The study results are beneficial for the screening of thalassemia in the genetic consultation and the prenatal gene diagnosis.