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伊朗伊斯法罕新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查:定量检测

Newborn screening for glucose-6-phosphate dehydrogenase deficiency in Isfahan, Iran: a quantitative assay.

作者信息

Iranpour Ramin, Hashemipour Mahin, Talaei Seyed-Mojtaba, Soroshnia Mohsen, Amini Abasgholi

机构信息

Department of Pediatrics, Al-Zahra Hospital, Isfahan University of Medical Sciences, Sofe Bolvar, 8174675731 Isfahan, Iran.

出版信息

J Med Screen. 2008;15(2):62-4. doi: 10.1258/jms.2008.008027.

Abstract

OBJECTIVES

To determine the prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Isfahan, the central state of Iran.

METHODS

From February to March 2006, a total of 2501 samples were screened for the quantitative measurement of G6PD activity by enzymatic colorimetric assay by a commercial kit (GAMMA, Belgium). The neonates were referred from 17 delivery units to the Isfahan neonatal screening center at 3-7 days after birth. Any neonate with a value < 6.4 U/gHb was considered G6PD deficient.

RESULTS

Of the 2501 newborns (1307 males, 1194 females) screened, 79 neonates were found to have G6PD deficiency (67 males, 12 females). The overall incidence of G6PD deficiency was 3.2%. Frequency in male population was 5.1 % (67 out of 1307 male neonates) and in female population was 1% (12 out of 1194 female neonates).The female:male ratio was 1:5.5 (P = 0.0001). The mean enzyme activity in deficient patients was 3.22 +/- 1.8 U/gHb (male deficient group; 3.17 +/- 1.74 U/gHb, female deficient group; 3.49 +/- 2.17 U/gHb, P = 0.58).

CONCLUSION

Routine neonatal screening in Isfahan, Iran with a relatively high prevalence of G6PD deficiency is justified and meets the World Health Organization recommendation.

摘要

目的

确定伊朗中部省份伊斯法罕葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的患病率。

方法

2006年2月至3月,使用商业试剂盒(比利时GAMMA)通过酶比色法对总共2501份样本进行G6PD活性定量检测。新生儿在出生后3至7天从17个分娩单位转诊至伊斯法罕新生儿筛查中心。任何G6PD值<6.4 U/gHb的新生儿被视为G6PD缺乏。

结果

在筛查的2501名新生儿(1307名男性,1194名女性)中,发现79名新生儿患有G6PD缺乏症(67名男性,12名女性)。G6PD缺乏症的总体发病率为3.2%。男性人群中的发病率为5.1%(1307名男性新生儿中的67名),女性人群中的发病率为1%(1194名女性新生儿中的12名)。女性与男性的比例为1:5.5(P = 0.0001)。缺乏症患者的平均酶活性为3.22 +/- 1.8 U/gHb(男性缺乏症组;3.17 +/- 1.74 U/gHb,女性缺乏症组;3.49 +/- 2.17 U/gHb,P = 0.58)。

结论

在伊朗伊斯法罕进行常规新生儿筛查是合理的,该地区G6PD缺乏症患病率相对较高,符合世界卫生组织的建议。

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