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克罗地亚岛屿人群中葡萄糖-6-磷酸脱氢酶缺乏症的高发病率:来自克罗地亚维斯岛的实例

High incidence of glucose-6-phosphate dehydrogenase deficiency in Croatian island isolate: example from Vis island, Croatia.

作者信息

Markić Josko, Krzelj Vjekoslav, Markotić Anita, Marusić Eugenija, Stricević Luka, Zanchi Jaksa, Bosnjak Nada, Sapunar Ada

机构信息

Department of Pediatrics University Hospital Split, Croatia.

出版信息

Croat Med J. 2006 Aug;47(4):556-70.

Abstract

AIM

To determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the population of the town of Komiza on the island of Vis, which has previously been reported as a place with several cases of favism.

METHODS

We screened 302 randomly selected men, using the fluorescent spot test. Fluorescence readings were performed at the beginning and 5, 10, and 20 minutes after incubation, and were classified into three groups: bright fluorescence, weak fluorescence, and no fluorescence. All men found to be G6PD deficient were tested with a quantitative spectrophotometric UV method.

RESULTS

Of the 302 tested blood samples, 36 (11.9%) samples showed weak fluorescence or no fluorescence spots. Spectrophotometric UV test showed that 18 (5.96%) men were G6PD deficient. The prevalence of G6PD deficiency in the population of Komiza is significantly higher (P<0.001) than the prevalence in the whole population of Dalmatia in the south of Croatia (0.75% in men).

CONCLUSION

On the basis of these findings, we recommend including the newborns from the island of Vis into a screening program for G6PD deficiency. Our results indicate that G6PD deficiency should be determined for all the island isolates in the Mediterranean basin and they warrant further studies.

摘要

目的

确定维斯岛科米扎镇人群中葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的患病率,该岛此前曾报告有几例蚕豆病病例。

方法

我们使用荧光斑点试验对302名随机选择的男性进行了筛查。在孵育开始时以及孵育5、10和20分钟后进行荧光读数,并分为三组:强荧光、弱荧光和无荧光。所有被发现G6PD缺乏的男性均采用定量分光光度法紫外线法进行检测。

结果

在302份检测的血样中,36份(11.9%)样本显示弱荧光或无荧光斑点。分光光度法紫外线检测显示,18名(5.96%)男性G6PD缺乏。科米扎镇人群中G6PD缺乏症的患病率显著高于克罗地亚南部达尔马提亚地区总人口中的患病率(男性为0.75%)(P<0.001)。

结论

基于这些发现,我们建议将维斯岛的新生儿纳入G6PD缺乏症筛查项目。我们的结果表明,地中海盆地所有岛屿孤立人群都应进行G6PD缺乏症检测,并且需要进一步研究。

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