Department of Biomedical Laboratory and Imaging Science, Faculty of Medicine, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary.
Int J Lab Hematol. 2012 Apr;34(2):172-8. doi: 10.1111/j.1751-553X.2011.01377.x. Epub 2011 Oct 10.
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.
Blood catalase activity, hemoglobin, HbA(2) , HbF, and beta-globin gene mutations were determined in 43 Hungarian patients with beta-thalassemia trait.
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.
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.
地中海贫血患者的红细胞尤其易受到过氧化氢的氧化应激，过氧化氢由酶过氧化氢酶来调节。本研究的目的是检测血液过氧化氢酶的活性，并探讨血液过氧化氢酶与β-地中海贫血基因突变之间的关系。
测定 43 名匈牙利β-地中海贫血患者的血液过氧化氢酶活性、血红蛋白、HbA（2）、HbF 和β-球蛋白基因突变。
与对照组相比，β-地中海贫血患者的血液过氧化氢酶平均值较低（P＜0.001）（男性：84±29MU/L 比性别匹配的对照组：118±18MU/L 和女性：74±18MU/L 比 108±114MU/L），血液过氧化氢酶与血红蛋白比值的平均值也较低（男性：0.72±0.22MU/g 比 0.85±0.12MU/g，女性：0.77±0.26MU/g 比 0.84±0.11MU/g）。HbA（2）的测定对β-地中海贫血患者的检测具有较高的灵敏度和特异性。突变分析显示 13 种β-地中海贫血患者的基因突变，其中 6 种在匈牙利β-地中海贫血患者中以前未报告过。每一组突变都显示血液过氧化氢酶和过氧化氢酶与血红蛋白比值的平均值降低（P＜0.01）。未在β-地中海贫血患者中发现无过氧化氢酶基因突变。
血液过氧化氢酶活性的降低可能是由于自由基对过氧化氢酶蛋白的破坏作用所致。因此，这些β-地中海贫血患者可能更容易受到氧化应激造成的损害。
