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土耳其人群中红细胞丙酮酸激酶缺乏症的患病率及酶的正常值

Prevalence of erythrocyte pyruvate kinase deficiency and normal values of enzyme in a Turkish population.

作者信息

Akin H, Baykal-Erkiliç A, Aksu A, Yücel G, Gümüşlü S

机构信息

Biochemistry Department, Akdeniz University School of Medicine, Antalya, Turkey.

出版信息

Hum Hered. 1997 Jan-Feb;47(1):42-6. doi: 10.1159/000154388.

DOI:10.1159/000154388
PMID:9017979
Abstract

A pyruvate kinase deficiency prevalence study and determination of the normal levels of the enzyme were performed in Antalya city, Turkey. Heparinized blood samples obtained from a representative population of the Antalya province (617 women and 573 men) were tested for pyruvate kinase deficiency by qualitative and quantitative tests between April 1992 and March 1994. The mean pyruvate kinase activity was found to be 19.8 +/- 4.0 IU/g Hb whereas the enzyme activity of deficient cases varied between 7.5 and 12.2 IU/g Hb. Taking into account that pyruvate kinase deficiency is the second most common cause of nonspherocytic congenital hemolytic anemia, detection of deficient cases by genetic screening tests appears to be an informative clinical indicator of hemolytic anemia.

摘要

在土耳其安塔利亚市进行了一项丙酮酸激酶缺乏症患病率研究,并测定了该酶的正常水平。1992年4月至1994年3月期间,从安塔利亚省具有代表性的人群(617名女性和573名男性)中采集肝素化血样,通过定性和定量检测来检测丙酮酸激酶缺乏症。发现丙酮酸激酶的平均活性为19.8 +/- 4.0 IU/g血红蛋白,而缺乏症病例的酶活性在7.5至12.2 IU/g血红蛋白之间。鉴于丙酮酸激酶缺乏症是非球形先天性溶血性贫血的第二大常见病因,通过基因筛查试验检测缺乏症病例似乎是溶血性贫血的一个有参考价值的临床指标。

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