铁过载对地中海贫血患者造血功能的损伤和机制研究
摘要
<正>地中海贫血(简称地贫)是一组由于某类珠蛋白基因缺陷,致使珠蛋白链合成缺如或不足所引起的遗传性溶血性贫血,是人类最常见的基因缺陷病,广泛流行于地中海流域、东南亚及我国广西、广东等南方各省。根据临床表现,地中海贫血分为非输血依赖型地贫(NTDT)和重型地贫(TDT)。NTDT包括轻型地贫和中间型地贫。轻型地贫患者没有症状,而TDT患者在生命早期即出现重度贫血,需要
引文
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[24]WANG H,AN P,XIE E,et al.Characterization of ferroptosis in murine models of hemochromatosis[J].Hepatology,2017,66(2):449-446.
[25]STOCKWELL B R,FRIEDMANN ANGELI J P,BA-YIR H,et al.Ferroptosis:a regulated cell death nexus linking metabolism,redox biology,and disease[J].Cell,2017,171(2):273-285.
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[2]MODELL B,KHAN M,DARLISON M.Survival inβ-thalassaemia major in the UK:data from the UKThalassaemia Register[J].Lancet,2000,355(9220):2051-2052.
[3]BORGNA-PIGNATTI C,RUGOLOTTO S,DE STE-FANO P,et al.Survival and complications in patients with thalassemia major treated with transfusion and deferoxamine[J].Aematologica,2004,89(10):1187-1193.
[4]YANG G H,LIU R R,LAI Y R,et al.How early can myocardial iron overload occur in beta thalassemia major?[J].PLoS One,2014,9(1):e85379.
[5]TAHER A T,PORTER J,VIPRAKASIT V,et al.Deferasirox reduces iron overload significantly in nontransfusion-dependent thalassemia:1-year results from aprospective,randomized,double-blind,placebo-controlled study[J].Blood,2012,120(5):970-977.
[6]LIU R R,HUANG Y M,LAI Y R,et al.Iron overload status in patients with non-transfusion-dependent thalassemia in China[J].Blood,2016,128(22):1287.
[7]MITCHELL M,GORE S D,ZEIDAN A M.Iron chelation therapy in myelodysplastic syndromes:where do we stand?[J].Expert Rev Hematol,2013,6(4):397-410.
[8]MANDUZIO P.Deferasirox in a refractory anemia after other treatment options:case report and literature review[J].Clin Case Rep,2015,3(6):361-367.
[9]ANGELUCCI E,CIANCIULLI P,FINELLI C,et al.Unraveling the mechanisms behind iron overload and ineffective hematopoiesis in myelodysplastic syndromes[J].Leuk Res,2017(62):108-115.
[10]CHUTVANICHKUL B,VATTANAVIBOON P,MA-S-OODI S,et al.Labile iron pool as a parameter to monitor iron overload and oxidative stress status inβ-thalassemic erythrocytes[J].Cytometry B Clin Cytom,2018,94(4):631-636.
[11]PRUS E,FIBACH E.Effect of Iron Chelators on Labile Iron and Oxidative Status of Thalassaemic Erythroid Cells[J].Acta Haematol,2010(123):14-20.
[12]JACKSON S P,BARTEK J.The DNA-damage response in human biology and disease[J].Nature,2009,461(7267):1071-1078.
[13]SAGAR C S,KUMAR R,SHARMA D C,et al.DNAdamage:beta zero versus beta plus thalassemia[J].Ann Hum Biol,2015,42(6):585-588.
[14]RAJA S O,SHAW J,CHATTOPADHYAY A,et al.Synchronous fluorescence based one step optical method for assessing oxidative stress and its dependence on serum ferritin[J].Analytical Methods,2014,6(16):6228-6231.
[15]HUANG Y M,LEI Y,LIU R R,et al.Imbalance of erythropoiesis and iron metabolism in patients with thalassemia[J].Int J Med Sci,2019,16(2):302-310.
[16]DE FRANCESCHI L,BERTOLDI M,MATTE A,et al.Oxidative stress andβ-thalassemic erythroid cells behind the molecular defect[J].Oxid Med Cell LON-GEV,2013(2013):985210.
[17]CHAI X,LI D,CAO X,et al.ROS-mediated iron overload injures the hematopoiesis of bone marrow by damaging hematopoietic stem/progenitor cells in mice[J].Sci Rep,2015(5):10181.
[18]MUTO Y,NISHIYAMA M,NITA A,et al.Essential role of FBXL5-mediated cellular iron homeostasis in maintenance of hematopoietic stem cells[J].Nat Commun,2017(8):16114.
[19]TYAN P I,RADWAN A H,EID A,et al.Novel approach to reactive oxygen species in non-transfusiondependent thalassemia[J].Biomed Res Int,2014(2014):350432.
[20]SHAW J,CHAKRABORTY A,NAG A,et al.Intracellular iron overload leading to DNA damage of lymphocytes and immune dysfunction in thalassemia major patients[J].Eur J Haematol,2017,99(5):399-408.
[21]FERRO E,VISALLI G,CIVA R,et al.Oxidative damage and genotoxicity biomarkers in transfused and untransfused thalassemic subjects[J].Free Radic Biol Med,2012,53(10):1829-1837.
[22]DIXON S J,LEMBERG K M,LAMPRECHT M R,et al.Ferroptosis:an iron-dependent form of nonapoptotic cell death[J].Cell,2012,149(5):1060-1072.
[23]李海,董健健,程楠.铁死亡与神经变性疾病地研究进展[J].中国实用神经疾病杂志,2017,20(20):113-115.
[24]WANG H,AN P,XIE E,et al.Characterization of ferroptosis in murine models of hemochromatosis[J].Hepatology,2017,66(2):449-446.
[25]STOCKWELL B R,FRIEDMANN ANGELI J P,BA-YIR H,et al.Ferroptosis:a regulated cell death nexus linking metabolism,redox biology,and disease[J].Cell,2017,171(2):273-285.
[26]XIE Y,HOU W,SONG X,et al.Ferroptosis:process and function[J].Cell Death Differ,2016,23(3):369-379.