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[新生儿遗传性葡萄糖-6-磷酸脱氢酶缺乏症]

[Hereditary glucose-6-phosphate dehydrogenase deficiency in newborn infants].

作者信息

Askerova T A, Kichibekov B R, Movsum-zade K M

出版信息

Pediatriia. 1992(2):10-3.

PMID:1387470
Abstract

Early diagnosis of the deficiency of glucose 6-phosphate dehydrogenase was made in examining 428 samples of funic blood from 230 boys and 198 girls. The normal level of the enzyme activity was established in red blood cells of the healthy newborn with regard to the national and sexual differences. The hereditary character of the deficiency of glucose 6-phosphate dehydrogenase was supported in 37 neonates by analyzing the pedigrees. The enzyme deficiency was associated with different forms of hemoglobinopathies: alpha- and beta-thalassemia, structurally abnormal hemoglobin S and methemoglobinemia. The considerable prevalence of the deficiency of glucose 6-phosphate dehydrogenase was revealed in Azerbaijan for the first time. The phenotypic frequency amounted to 8.64% whereas the gene one to 0.0623.

摘要

通过检测230名男孩和198名女孩的428份脐带血样本,对葡萄糖-6-磷酸脱氢酶缺乏症进行了早期诊断。根据民族和性别差异,确定了健康新生儿红细胞中该酶活性的正常水平。通过分析家系,在37名新生儿中证实了葡萄糖-6-磷酸脱氢酶缺乏症的遗传特征。该酶缺乏症与不同形式的血红蛋白病相关:α和β地中海贫血、结构异常的血红蛋白S和高铁血红蛋白血症。首次在阿塞拜疆发现葡萄糖-6-磷酸脱氢酶缺乏症的相当高的患病率。表型频率为8.64%,而基因频率为0.0623。

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