α地中海贫血的新生儿筛查  

Neonatal Screening for Alpha-thalassemia

作　　者：肖鸽飞[1] 周玉球[1] 张旭华[1] 李文典[1] 李少云[1] 陈雪清[1] 

机构地区：[1]广东省珠海市妇幼保健院医学遗传研究所,519001

出　　处：《中华围产医学杂志》2002年第1期46-48,共3页Chinese Journal of Perinatal Medicine

基　　金：珠海市科委重点科技攻关基金资助项目 (基金编号1998-1-18)

摘　　要：目的　确定珠海市人口中α地中海贫血 (简称α-地贫 )真实的基因携带率及探讨α-地贫新生儿筛查的必要性。　方法　采用 Zip zone电泳法对 1998年 11月～ 1999年 12月间连续留取的新生儿脐血标本系统地进行 Hb Bart’s定量检测。　结果　在 15 2 8份脐血标本中 ,检出 Hb Bart's(≥ 1.0 % ) 112例 ,阳性率为 7.33%。其中 Hb Bart's水平为 %～ 1%、～ 2 %、～ 10 %和～ 40 % ,分别有78、38、73和 1份 ,因此 ,该地区人群中静止型、α-地贫 - 1和 Hb H的基因摧带率分别为 2 .49%、4.78%和 0 .0 7% ,以双亲均为粤籍者居多 (6 7.86 % ) ,双亲均为南方籍者则次之 (2 2 .32 % )。此外 ,尚发现异常血红蛋白病 3例。　结论　珠海市人群中α-地贫 - 1的基因携带率与台湾和香港两地区类似 (P >0 .0 5 ) ,而显著低于广州地区人群中该病 8.3%的基因携带率 (P<0 .0 5 ) ,造成这种显著性差异的主要原因是由于两地区的人口背景不同所致。此结果肯定了在α-地贫高发区普遍开展新生儿血红蛋白病筛查所具有的早期诊断和科学研究价值 。Objective To investigate the prevalence of alpha-thalassemia and the need for neonatal screening for alpha-thalassemia in Zhuhai area of Guangdong Province. Methods Fifteen hundred and tewnty-eight cord blood samples were collected between November 1998 and December 1999 from Zhuhai City and Hb Bart's were tested by Zip zone agarose gel electrophoresis supplied by Helena Lab Co.(U.S.A). Results One hundred and twelve out of 1 528 samples(7.33%) were Hb Bart's positive(≥1.0%). Concentrations of Hb Bart's varied from 1% to 22.4%. Among 112 cases with Hb Bart`s positive there were 38, 73 and 1 cases with Hb Bart's levels of 0%～1%、~2%～10% and ~40% respectively, so the rates of silent α-thalassemia, α-thalassemia-1 and HbH disease were 2.49%, 4.78% and 0.07% respectively. Abnormal hemoglobin variants were also found in 3 samples(0.20%). In the positive samples for Hb Bart's, 76(67.86%) of both parents have native place of Guangdong. One of both parents being native place of Guangdong or the other southern native place accounts for 30.36%(34/112) of the neotates, 22.32%(25/112) both parents have the southern native place. Conclusions The prevalence of alpha-thalassemia-1 in Zhuhai area was similar to that of Taiwan and Hongkong areas(P> 0.05), but significantly lower than 8.3% in Guangzhou area(P<0.005). The difference was mainly attributed to that about one-third of the population in the city were migrated from other provinces. The results suggest that the screening procedure for α-thalassemia should be donein the high prevalance area. Routine cord blood screening by hemoglobin electrophoresis is recommended.

关 键 词：血红蛋白病 Α地中海贫血 新生儿 筛查 

分 类 号：R722.19[医药卫生—儿科]