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
相关论文
共 50 条
  • [41] Prevalence of pyruvate kinase deficiency among the south Iranian population: Quantitative assay and molecular analysis
    Yavarian, M.
    Karimi, M.
    Shahriary, M.
    Afrasiabi, A. R.
    BLOOD CELLS MOLECULES AND DISEASES, 2008, 40 (03) : 308 - 311
  • [42] The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency
    Al-Samkari, Hanny
    Addonizio, Kathryn
    Glader, Bertil
    Morton, D. Holmes
    Chonat, Satheesh
    Thompson, Alexis A.
    Kuo, Kevin H. M.
    Ravindranath, Yaddanapudi
    Wang, Heng
    Rothman, Jennifer A.
    Kwiatkowski, Janet L.
    Kung, Charles
    Kosinski, Penelope A.
    Al-Sayegh, Hasan
    London, Wendy B.
    Grace, Rachael F.
    BRITISH JOURNAL OF HAEMATOLOGY, 2021, 192 (06) : 1092 - 1096
  • [43] RELATIONSHIP BETWEEN ACTIVITY OF PYRUVATE KINASE AND AGE OF NORMAL HUMAN ERYTHROCYTE
    POWELL, RD
    DEGOWIN, RL
    NATURE, 1965, 205 (4970) : 507 - &
  • [44] Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats
    Grahn, Robert A.
    Grahn, Jennifer C.
    Penedo, Maria C. T.
    Helps, Chris R.
    Lyons, Leslie A.
    BMC VETERINARY RESEARCH, 2012, 8
  • [45] CLINICAL STUDIES ON HEREDITARY NONSPHEROCYTIC HEMOLYTIC ANEMIA WITH ERYTHROCYTE PYRUVATE KINASE DEFICIENCY
    BLUME, KG
    BUSCH, D
    ARNOLD, H
    LOHR, GW
    KLINISCHE WOCHENSCHRIFT, 1971, 49 (04): : 228 - &
  • [46] 3 CASES O HEMOLYTIC ANEMIA WITH ERYTHROCYTE PYRUVATE KINASE DEFICIENCY IN ALBERTA
    COLLIER, HB
    ASHFORD, DR
    BELL, RE
    CANADIAN MEDICAL ASSOCIATION JOURNAL, 1966, 95 (23) : 1188 - &
  • [47] ERYTHROCYTE PYRUVATE-KINASE DEFICIENCY - CHARACTERIZATION OF A NEW VARIANT (PK AARAU)
    LAKOMEK, M
    WINKLER, H
    SCHARNETZKY, M
    TILLMANN, W
    LAIER, G
    MARTI, HR
    SCHROTER, W
    BLUT, 1984, 48 (03): : 123 - 129
  • [48] CONGENITAL HEMOLYTIC ANEMIA IN BASENJI DOG DUE TO ERYTHROCYTE PYRUVATE KINASE DEFICIENCY
    SEARCY, GP
    MILLER, DR
    TASKER, JB
    CANADIAN JOURNAL OF COMPARATIVE MEDICINE, 1971, 35 (01): : 67 - &
  • [49] INHERITED ERYTHROCYTE PYRUVATE-KINASE DEFICIENCY IN THE WEST HIGHLAND WHITE TERRIER
    CHAPMAN, BL
    GIGER, U
    JOURNAL OF SMALL ANIMAL PRACTICE, 1990, 31 (12) : 610 - 616
  • [50] Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats
    Robert A Grahn
    Jennifer C Grahn
    Maria CT Penedo
    Chris R Helps
    Leslie A Lyons
    BMC Veterinary Research, 8
12345