PREVALENCE OF ERYTHROCYTE PYRUVATE-KINASE DEFICIENCY AND NORMAL VALUES OF ENZYME IN A TURKISH POPULATION

Citation
H. Akin et al., PREVALENCE OF ERYTHROCYTE PYRUVATE-KINASE DEFICIENCY AND NORMAL VALUES OF ENZYME IN A TURKISH POPULATION, Human heredity, 47(1), 1997, pp. 42-46
Citations number
18
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00015652
Volume
47
Issue
1
Year of publication
1997
Pages
42 - 46
Database
ISI
SICI code
0001-5652(1997)47:1<42:POEPDA>2.0.ZU;2-7
Abstract
A pyruvate kinase deficiency prevalence study and determination of the normal levels of the enzyme were performed in Antalya city, Turkey. H eparinized 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 v aried between 7.5 and 12.2 IU/g Hb. Taking into account that pyruvate kinase deficiency is the second most common cause of nonspherocytic co ngenital hemolytic anemia, detection of deficient cases by genetic scr eening tests appears to be an informative clinical indicator of hemoly tic anemia.