Neonatal screening for glucose-6-phosphate dehydrogenase deficiency fails to detect heterozygote females

被引：17

作者：

Zaffanellol M. ^{[1
,3
]}

Rugolotto S. ^{[2
]}

Zamboni G. ^{[2
]}

Gaudino R. ^{[1
]}

Tatò L. ^{[2
]}

机构：

[1] Reg. Center of Neonatal Screening, University of Verona, Verona

[2] Department of Paediatrics, University of Verona, Verona

[3] Department of Paediatrics, Reg. Ctr. Neonatal Inborn Errors M., University of Verona, 37134 Verona, Piazzale L. Scuro

来源：

European Journal of Epidemiology | 2004年 / 19卷 / 3期

关键词：

Glucose-6-phosphate dehydrogenase (G6PD); Newborn screening;

D O I：

10.1023/B:EJEP.0000020445.48298.3f

中图分类号：

学科分类号：

摘要：

We examined glucose-6-phosphate dehydrogenase (G6PD) deficiency in north-eastern Italian Caucasian neonates detected by neonatal screening, in order to measure the incidence of heterozygote females detected by neonatal screening, and to estimate the near-true total incidence. A total of 85,437 Caucasian neonates, born between January 2000 and December 2001, have been enclosed in the study. The total incidence of the disease, measured by fluorescent method, is 0.9‰; the total incidence, calculated by Hardy-Weinberg law, is 4.8‰. The frequency of missed females is 93% of total females expected with G6PD deficiency; most of them are very likely heterozygous females. The sensitivity of the fluorescent method might be not sufficient to detect all females. Since heterozygote females might develop the symptoms of G6PD deficiency later, these results suggest that the G6PD neonatal screening may not be helpful in preventing disease in females.

引用

页码：255 / 257

页数：2

共 21 条

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