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

被引：3
|
作者：
Akin, H [1 ]
BaykalErkilic, A [1 ]
Aksu, A [1 ]
Yucel, G [1 ]
Gumuslu, S [1 ]
机构：
[1] AKDENIZ UNIV, SCH MED, DEPT BIOCHEM, ANTALYA, TURKEY
来源：
HUMAN HEREDITY | 1997年 / 47卷 / 01期
关键词：
enzyme; fluorescence spot test; prevalence study;
D O I：
10.1159/000154388
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：42 / 46
页数：5
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