广东珠海地区α-地中海贫血的新生儿筛查

Neonatal screening for alpha-thalassemia in Zhuhai area of Guangdong Province.

为了确定珠海市户籍人口中α -地贫的基因携带率及α -地贫新生儿筛查的必要性 ,本文采用Zipzone电泳法对在 1998年 11月至 1999年 12月期间留取的 15 2 8份新生儿脐血标本系统地进行HbBart’s定量。检出HbBart’s(≥ 1.0 % ) 112例 ,阳性率为 7.33%。其中HbBart’s水平为 1% - 2 %、2 % - 10 %和 10 % - 40 %分别有 38、73和 1例。此外 ,尚发现异常Hb病 3例 (占 0 .2 0 % )。结果显示 :本地区人群中α-地贫的基因携带率显著低于广州地区该病的基因携带率 (P <0 .0 1)。这些结果同时也肯定了在地贫高发区普遍开展新生儿血红蛋白病筛查的价值 。

Objective:To determine the prevalence of alpha-thalassemia and the need for neonatal screening for alpha-thalassemia in Zhuhai area of Guangdong Province.Methods:between November 1998 and December 1999 1528 cord blood samples collected from the area were systematically screened with agarose gel electrophoresis for HbBart's.Results:112 of 1528 samples(7.33%) were positive for Hb Bart's (≥1.0%).Concentrations of Hb Bart's varied from 1% to 22.4% of 112 cases with Hb Bart's,38,73 Chinese Journal of Birth Health & Heredity 9(4):128·2001and 1 had Hb Bart's levels of 1%to 2%,2%to 10% and 10% to 40%,respectively.Abnormal hemoglobin variants were also found in 3 samples (0.20%).Conclusions;The prevalence of alpha-thalassemia was significantly lower in Zhuhai area than that in Guangzhou area (P<0.01).These results also conform the value of universal screening for alpha-thalassemia in the area.Routine cord blood screeening by hemoglobin electrophoresis is recommended.