【摘要】 目的了解本地区G-6-PD缺陷的发生率及新生儿脐血筛查对诊断G-6-PD缺陷的应用价值。方法对产科出生的11574例全部活产婴作脐血G-6-PD筛查,分别于3~5岁对脐血检测G-6-PD缺陷者(320例)和G-6-PD正常者(215例)复查G-6-PD活性。结果11574例中,脐血检测G-6-PD缺陷641例,缺陷率为5.5%;男性缺陷率为7.9%,女性为3.0%,二者比较差异有统计学意义(P<0.001),对缺陷者复查幼儿血检测G-6-PD活性,二者符合率高达96.7%。结论G-6-PD缺陷在本地区常见,脐血筛查可作为诊断G-6-PD缺陷的有力依据,对降低其发病率有重要意义。更多还原

【Abstract】 Objective To investigate the incidence and diagnosis of glucose-6-phosphate dehydrogenate(G-6-PD) deficiency through screening with umbilical blood or infants’ peripheral blood.Methods The umbilical blood of 11574 infants delivered in our hospital was detected to screen G-6-PD deficiency.Activity of G-6-PD was also detected in 320 G-6-PD deficiency infants and 215 normal infants from 3 to 5 years old.Results Six hundred and forty-one patients in 11574 cases were screened with umbilical blood as G-6-PD deficiency and the incidence rate was 5.5%.The incidence rates in boys and girls were 7.9% and 3.0% respectively with significant difference(P<0.01).The coincidence rate of detection with umbilical blood or infants peripheral blood was 96.7%.Conclusions The G-6-PD deficiency was a common disease in this district and screening with umbilical blood may be a useful way to diagnose it.更多还原