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沙特人群中葡萄糖-6-磷酸脱氢酶、丙酮酸激酶和己糖激酶缺乏症的发生率。

Frequency of glucose-6-phosphate dehydrogenase, pyruvate kinase and hexokinase deficiency in the Saudi population.

作者信息

el-Hazmi M A, Al-Swailem A R, Al-Faleh F Z, Warsy A S

出版信息

Hum Hered. 1986;36(1):45-9. doi: 10.1159/000153599.

Abstract

The frequencies of glucose-6-phosphate dehydrogenase (G-6-PD), pyruvate kinase (PK) and hexokinase (HK) deficiency were determined in different regions of Saudi Arabia. G-6-PD deficiency was found to range from 0.045 to 0.220 for the male and 0.020 to 0.125 for the female population. The highest frequencies were found to exist in the regions which are endemic to malarial parasite and have high frequencies of sickle cell and thalassaemia genes. Partial deficiencies of PK and HK were encountered in each region, however, no case of complete deficiency of these enzymes was identified. Further investigations are in progress to determine the clinical manifestations of enzyme deficiencies in the Saudi population.

摘要

在沙特阿拉伯的不同地区测定了葡萄糖-6-磷酸脱氢酶(G-6-PD)、丙酮酸激酶(PK)和己糖激酶(HK)缺乏症的发生率。结果发现,男性G-6-PD缺乏症的发生率在0.045至0.220之间,女性在0.020至0.125之间。在疟原虫流行且镰状细胞和地中海贫血基因频率较高的地区,发现其发生率最高。在每个地区都发现了PK和HK的部分缺乏症,但未发现这些酶完全缺乏的病例。目前正在进行进一步调查,以确定沙特人群中酶缺乏症的临床表现。

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