三水区3244例新生儿α—地中海贫血的脐血筛查结果分析

唐永梅??余烈中

[摘要] 目的 分析三水區3244例新生儿α-地中海贫血的脐血筛查结果，了解本地区新生儿α-地中海贫血的罹患情况和类型分别。 方法 采用简单随机抽样方法抽取三水区2015年9月～2016年10月这一时间段内出生婴儿中的3244例，待胎儿娩出，在切断脐带时对胎盘端脐带血液样本进行收集，采用电泳方式对HB Barts进行检测。 结果 在三水区3244例新生儿中，共检测出α-地中海贫血患者284例，占比8.7%。在分型方面，静止型为111例，占比39.2%、标准型为142例，占比50.2%、中间型为23例，占比8.1%、重症型为7例，占比2.5%，基因检测结果共检测出α-地中海贫血患者294例，占比9.06%。在分型方面，静止型为111例，占比39.2%、标准型为142例，占比50.2%、中间型为23例，占比8.1%、重症型为7例，占比2.5%，在各型患儿的性别、发病例数等信息方面，对比差异无统计学意义（P>0.05）。 结论 在临床筛查新生儿α-地中海贫血中，HB Barts作为一项关键指标能够较好提高筛查成功率，测定其含量可作为临床初步分型的参考，但作为优生的最终依据还需通过基因的诊断，且血红蛋白电泳检测存在着一定的不足之处。对于α-地中海贫血的诊疗要进行血常规、血红蛋白电泳筛查结合基因检测联合运用。

[关键词] 三水区；α-地中海贫血；脐血

[中图分类号] R722.8 [文献标识码] A [文章编号] 2095-0616（2017）12-147-03

Analysis on Cord Blood Screening Result of α-thalassemia of 3244 Beonates in Sanshui District

TANG Yongmei1 YU Liezhong2

1.Department of Laboratory，Sanshui District People's Hospital，Foshan 528100，China；2.Department of Laboratory，Sanshui District Maternal and Child Health Hospital，Foshan 528100，China

[Abstract] Objective To analyze cord blood screening results of α-thalassemia of 3244 neonates in Sanshui district to know the incidence and type of neonatal α-thalassemia in this district. Methods 3244 neonates who were born in Sanshui district from September 2015 to October 2016 were selected according to the simple random sampling method.After delivery， cord blood samples of placenta were collected when umbilical cord was cut.HB Barts was detected by electrophoresis method. Results Of 3244 neonates in Sanshui district，283 patients were detected with α-thalassemia accounting for 8.7%.In typing， there were 111 cases of the static type accounting for 39.2%，142 cases of the standard type accounting for 50.2%，23 cases of the intermediate type accounting for 8.1% and 7 cases of the severe type accounting for 2.5%. Comparative differences in gender，number of cases and other information of neonates with different types had no statistical significance （P>0.05）. Conclusion In the clinical screening of neonatalα-thalassemia， HB Barts as a key index can improve the success rate of screening.And determination of its content can be used as the reference of primary clinical type.But as the final basis of eugenics，gene diagnosis is also needed.And there are some disadvantages of electrophoresis analysis of hemoglobin.Diagnosis and treatment of α-thalassemia needs combination of blood routine， electrophoresis analysis of hemoglobin and gene diagnosis.

[Key words] Sanshui district；Alpha thalassemia；Cord blood

地中海贫血属于一种遗传性溶血性贫血疾病，常由珠蛋白基因缺失、肽链合成障碍引起，临床主要表现为黄疸、肝脾肿大、贫血等症状，若为轻型，则一般不需进行治疗，若病情较重，则需尽早进行治疗，所以做好早期的筛查工作至关重要[1]。α……