摘要目的 了解福建宁德地区孕妇αt、β地中海贫血基因类型及分类,探讨地中海贫血发生情况,预防地中海贫血息儿出生.方法 采用前瞻性设计,以2016年10月至2018年8月在宁德市医院进行常规产检的孕妇为观察对象,采集静脉血,进行血细胞分析.对表现为小细胞低色素的孕妇,排除其他原因后,进行地中海贫血基因检查.采用PCR和反向斑点杂交(reverse dot blot hybridization,RDB)技术同时进行α、β地中海贫血基因检测.结果 共对39 890名孕妇进行血细胞分析,其中有1 427名孕妇血象表现为小细胞低色素性,检出率为3.58％;对其中343名孕妇进行地中海贫血基因筛查,检出α、β地中海贫血239例,检出率为69.68％.共检出α地中海贫血146例,检出率为42.57％,包括7种基因型,其中--SEA/αα检出117例,-α3.7/αα检出16例,-α4.2/αα检出5例,ααQs/αα与ααWS/αα各检出3例,-α3.7/-α4.2与--SEA/-α4.2各检出1例.共检出β地中海贫血88例,检出率为25.66％,包括7种基因型,其中IVS-Ⅱ-654/N检出39例,CD41-42/N检出32例,CD17/N检出7例,CD27-28/N和-28/N各检出3例,CD43/N和βE/N各检出2例.共检出α β复合型地中海贫血5例,包括5种基因型,分别为--SEA/αα,CD17/N;-α3.7/-α3.7,CD41-42/N;--SEA/αα,IVS-Ⅱ-654/N;-α3.7/αα,IVS-Ⅱ-654/N;-α3.7/αα,βE/N,均为1例.结论 福建宁德地区孕妇地中海贫血检出率较高,α地中海贫血以--SEA/αα基因型最多,β地中海贫血以IVS-Ⅱ-654/N基因型最多.应加强对宁德地区育龄妇女地中海贫血知识的宣传,重视孕妇地中海贫血的产前检查与诊断,预防重症地中海贫血患儿出生.

abstractsObjective To learn the gene types and classification of α-and β-thalassemia of pregnant women in Ningde City of Fujian Province,to investigate the morbidity of the thalassemia in Ningde City,and to prevent the birth of children with thalassemia.Methods A prospective study was used,pregnant women who took the pregnancy check-ups in Ningde Municipal Hospital from October 2016 to August 2018 were observed,venous blood samples were collected and blood cell analysis was performed based on routine blood examination.Pregnant women with microcyte hypochromic,excluded other causes,were did thalassemia genetic testing.αt-and β-thalassemia genotypes were detected using polymerase chain reaction (PCR) combined with reverse dot blot hybridization (RDB).Results Totally 39 890 pregnant women were examined,1 427 of them were presented with microcyte hypochromic,accounting for 3.58％.Among the 1 427 pregnant women,a total of 343 were screened for thalassemia genes,and 239 of them were diagnosed with thalassemia,accounting for 69.68％.Totally 146 cases of α-thalassemia were detected,accounting for 42.57％,7 genotypes were detected,among which the most common genotypes were as follows:-SEA/αα (117 cases),-α3.7/αα (16 cases),-α4.2/αα (5 cases),ααQS/αα (3 cases),ααhs/αα (3 cases),-α37/-α42 (1 case),and--SEA/-α4.2 (1 case).Totally 88 cases of β-thalassemia were detected,accounting for 25.66％,7 genotypes were detected,among which the most common genotypes were as follows:IVS-Ⅱ-654/N (39 cases),CD41-42/N (32 cases),CD17/N (7 cases),CD27-28/N (3 cases),-28/N (2 cases),CD43/N (2 cases),and βE/N (2 cases).Totally 5 cases were detected on α-β complex thalassaemia with one case of each:--SEA/αα,CD17/N;-α3.7/-α3.7,CD41-42/N;--SEA/αα,IVS-Ⅱ-654/N;-α3.7/αα,IVS-Ⅱ-654/N;and-α3.7/αα,βE/N.Conclusions In Ningde City,the prevalence of thalassemia in pregnant women is high,--srA/αα genotype is the most common type of α-thalassemia,and IVS-Ⅱ-654/N genotype is the most common type of [3-thalassemia.Therefore,we should strengthen the publicity of knowledge about thalassemia to women of child-bearing age,pay attention to the prenatal examination and diagnosis of thalassemia in pregnant women,and prevent the birth of infants with heavy thalassemia from the beginning.