title: Decreased blood catalase activity is not related to specific beta-thalassemia mutations in Hungary.
abstract: BACKGROUND
  Thalassemia erythrocytes are exposed to oxidative stress especially to hydrogen peroxide, which is regulated with the enzyme catalase. The aim of this study was to examine blood catalase activity and the relationship of blood catalase and beta-thalassemia gene mutations.
  
  
  METHODS
  Blood catalase activity, hemoglobin, HbA(2) , HbF, and beta-globin gene mutations were determined in 43 Hungarian patients with beta-thalassemia trait.
  
  
  RESULTS
  Compared to controls, the beta-thalassemia trait patients showed a low mean (P < 0.001) of blood catalase (men: 84 ± 29 MU/L vs. sex-matched controls: 118 ± 18 MU/L and women: 74 ± 18 MU/L vs. 108 ± 114 MU/L) and a low mean of blood catalase-to-blood hemoglobin ratio (men: 0.72 ± 0.22 MU/g vs. 0.85 ± 0.12 MU/g, women: 0.77 ± 0.26 MU/g vs. 0.84 ± 0.11 MU/g). The HbA(2) determination showed high sensitivity and specificity for the detection of beta-thalassemia trait patients. Mutation analyses revealed 13 beta-thalassemia trait mutations, of which six have not been reported before in Hungarian beta-thalassemia trait patients. Each group of mutations revealed decreased (P < 0.01) mean of blood catalase and catalase-to-hemoglobin ratio. Acatalasemia mutations were not found in beta-thalassemia trait patients.
  
  
  CONCLUSIONS
  The decrease in blood catalase activity might be due to the damaging effects of free radicals on the catalase protein. Consequently, these beta-thalassemia trait patients may be relatively susceptible to damage caused by oxidative stress.
authors: Department of Biomedical Laboratory and Imaging Science, Faculty of Medicine, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary.
authors: Z
authors: Z
authors: Kósa
authors: T
authors: T
authors: Nagy
authors: E
authors: E
authors: Nagy
authors: F
authors: F
authors: Fazakas
authors: L
authors: L
authors: Góth
mesh_terms: D002374:Catalase / Q000097:blood* / Q000378:metabolism; D004252:DNA Mutational Analysis; D004795:Enzyme Stability; D005260:Female; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D006814:Hungary; D008297:Male; D009154:Mutation; D018384:Oxidative Stress; D017086:beta-Thalassemia / Q000201:enzymology / Q000235:genetics*
chemical_list: D006454:Hemoglobins; D002374:Catalase