423例孕妇地中海贫血筛查及基因检测结果分析和临床意义

目的：探讨孕妇贫血（简称地贫）在产前检查中的发病率及对地贫基因携带的干预，更好地预防和减少重症地贫新生儿的出生。方法筛查实验采用以碱性血红蛋白电泳为主，结合血常规、红细胞孵育渗透脆性试验（简称脆性试验）、镜检血红蛋白H包涵体或高效液相色谱法（HPLC）对异常血红蛋白带进行分析；基因诊断法采用聚合酶链反应（PCR）和反向斑点杂交法（RDB）对地贫基因分型。结果血红蛋白成分分析结果：红细胞孵育渗透脆性试验结果阳性为6例；红细胞体积分布宽度（RDW）实验结果阳性为108例；平均红细胞体积（MCV）实验结果阳性为60例，其中大于100fL为48例，＜80fL为12例；碱性血红蛋白电泳实验结果阳性为18例，其中小于96．50％为3例，＞97．50％为15例。423例受检者均未检测到异常血红蛋白带。门诊423例孕妇地贫筛查的阳性率为4．26％（18/423）。其中α-地贫者15例，阳性率为3．55％（15/423），β-地贫者3例，阳性率为0．71％（3/423）。基因检测结果：筛查的423例孕妇中有333例孕妇小细胞低色素贫血血常规MCV≤80fL，平均红细胞血红蛋白含量（MCH）＜27pg]疑似地贫者进行地贫基因诊断分析，333例地贫基因受检者中确诊为地贫者48例，占14．41％。其中α-地贫24例，占7．21％（24/333）；β-地贫24例，占7．21％（24/333）。结论重庆主城地区妊娠妇女人群中存在较高的地贫发病率和地贫基因携带率。因此妇女孕期小细胞低色素贫血的需要进行地贫筛查及基因分析，对地贫基因携带者进行出生缺陷干预，减少出生缺陷，对优生优育和提高人口素质具有重要意义。

Analysis of thalassemia screening and genetic test in 423 pregnant women

Objective To investigate the incidence rate of thalassemia in pregnant women during prenatal de-tection ,and to explore the methods to prevent and reduce the birth rate of infants with severe thalassemia .Methods Alkaline hemoglobin electrophoresis ,combined with blood test ,red blood cells incubated osmotic fragility test （ fragil-ity test） ,microscopic examination of hemoglobin H inclusions or high performance liquid chromatography （HPLC） a-nalysis of abnormal hemoglobin band ,were performed or screening test .Polymerase chain reaction （PCR） and reverse dot blot （RDB） were used for genetic diagnosis of thalassemia genotyping .Results Among analysis of hemoglobin components ,red blood cell incubated osmotic fragility was positive in 6 cases ,red blood cell volumedistribution width （RDW） was positive in 108 cases ,mean corpuscular volume （MCV） was positive in 60 cases ,of which 48 cases were more than 100 fL ,and 12 cases were less than 80 fL ,and alkaline hemoglobin electrophoresis was positive in 18 ca-ses ,of which 3 cases were less than 96 .50% 15 cases more than 97 .5% .Among 423 cases ,receiving detection ,no case was found to be with abnormal hemoglobin .In 423 cases of outpatient pregnant women ,thalassemia screening positive rate was 4 .26% （18/423） ,includingα-thalassemia for 15 cases ,accounting for 3 .55% （15/423） andβ-thalas-semia for 3 cases ,accounting for 0 .71% （3/423） .Genetic test results indicated that out of 423 pregnant women ,who were screened ,333 cases were with small cell hypochromic anemia （MCV≤80 fL ,MCH〈27 pg） .Further examina-tion showed that in these 333 suspected thalassemia cases ,48 cases were with thalassemia ,accounting for 14 .41% , including 24 cases with α- thalassemia ,accounting for 7 .21% （24/333） and 24 cases with β-thalassemia ,accounting for 7 .21% （24/333） .Conclusion Indicating that there might be a high prevalence of thalassemia and thalassemia gene carrier in main area of Chongqing .Therefore ,thalassemia scre