摘要
目的：了解茂名市α-地中海贫血基因携带率的情况。方法：用血红蛋白电泳法，红细胞孵育渗透脆性试验（erythrocyte incuba-ted osmotic fragility test）和结合平均红细胞参数（MCV），对2006年8月-2007年11月在本院出生的新生儿进行α-地贫筛查。结果：①新生儿地中海贫血阳性检出率为12．50％，（492／3935）；②检出异常区带Hb—Bart＇s共398例，阳性率10．10％，根据Hb-Bart＇s含量推算出静止型、标准型α-地贫、HbH病、巴氏水肿胎的携带率分别为1．91％、7．98％和0．18％、0．01％。另外发现异常血红蛋白病共11例，发生率为0．28％，其中HbE 1例、HbG 3例、HbC-S 1例、Hb-M 3例、Hb-D 3例。结论：茂名市属于地贫高发区，应加强新生儿地贫筛查和产前诊断，早发现，早预防，指导合理婚配，以达到杜绝重型地贫儿出生，降低HbH病，防止Hb-Bart＇s胎儿水肿综合征等重型α-地贫的发生，对优生优育，提高人口素质具有重要意义。
Objective： To understand Maoming City α- thalassemia gene carrying rate situation. Methods： Hemoglobin electrophoresis, erythrocyte incubation osmotic fragility test （erythrocyte incubated osmotic fragility test） and the combination of mean corpuscular parameters （MCV）, from August 2006 to October 2007 in a hospital were detected to screen neonatal α - thalassemia. Results： （1）The positive rate of neonatal thalassemia was 12. 50% （492/3 935） ; （2）398 cases of abnormal zone Hb - Bart＇s the positive rate was 10. 10%, according to Hb -Bart＇s content projections of a static, standard α- thalassemia, HbH disease, Barthel fetal edema carrying rates were 1.91%, 7.98%, 0. 18%, 0.01%. Also 11 cases abnormal hemoglobin disease, the rate was 0.28%, 1 cases HbE, 3 cases HbG, 1 case HbC -S, 3 cases Hb - M3 and 3 cases Hb - D. Conclusion： Maoming City belongs high incidence area of thalassemia. To strengthen newborn screening and prenatal diagnosis, early discovery, early prevention, guidance reasonable marriages could eliminate severe thalassemia infants, lower HbH disease to prevent the Hb Bart - ＇s fetal edema syndrome, and prevent other heavy α - thalassemia, the occurrence of outstanding fertility, which plays great role in improving population quality.
出处
《中国妇幼保健》
CAS
北大核心
2008年第8期1098-1099,共2页
Maternal and Child Health Care of China
