重型β-地中海贫血的诊断与治疗进展
Journal: Basic Medical Theory Research DOI: 10.12238/bmtr.v4i4.5428
Abstract
β-地中海贫血是常染色体隐性遗传性贫血,分为重型、中间型和轻型β-地中海贫血,其中重型β-地中海贫血对健康的危害最大。重型β-地中海贫血的婴儿出生后6-24个月内出现贫血,影响生长发育,伴有骨骼畸形、脾肿大等表现。β-地中海贫血的诊断主要是根据临床表现,血液学检查、血红蛋白分析及基因诊断(反向斑点杂交,荧光溶解曲线及基因测序)等。输血和去铁剂治疗是重型β-地中海贫血的主要治疗方法,在有适应症情况下可以使用脾切除术,骨髓移植是目前根治β-地中海贫血的唯一选择,其他治疗方法则有基因治疗、诱导胎儿血红蛋白合成以及调节红细胞生成等。
Keywords
β-地中海贫血；诊断；治疗
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[2] 仇小强,陈萍,张凝,等.广西三城市7岁以下儿童β地中海贫血发生率及其基因突变类型的研究 [J].中华流行病学杂志,2009,30(10):1021-1024.
[3] Weatherall D. J. Williams T. N. Allen S. J. O’Donnell A. The population genetics and dynamics of the thalassemias. Hematol Oncol Clin North Am.2010;24:1021-1031.
[4] Galanello R. Origa R. Beta-thalassemia. Orphanet J Rare Dis.2010;5:11.
[5] Modell B.Khan M. Darlison M. Survival in beta-thalass aemia major in the UK: data from the UK Thalassaemia Register.Lancet.2000;355:2051-2052.
[6] Modell B. Khan M. Darlison M. Westwood M. A. Ingram D. Pennell D. J. Improved survival of thalassaemia major in the UK and relation to T2* cardiovascular magnetic resonance. J Cardiovasc Magn Reson.2008;10:42.
[7] Greek Haemoglobinopathies Study Group. A national registry of haemoglobinopathies in Greece: deducted demog raphics, trends in mortality and affected births. Ann Hema tol.2012;91:1451-1458.
[8] Galanello R. Melis M.A. Ruggeri R.Beta 0 thalassemia trait in Sardinia. Hemoglobin.1979;3:33-46.
[9] Values of mean cell volume and mean sphered cell volume can differentiate hereditary spherocytosis and thala ssemia L Liao, ZF Deng, YL Qiu, P Chen, WQ Chen, FQ Lin. Hema tology 19 (7),393-396.20.2014.
[10] Mean reticulocyte volume: a specific parameter to screen for hereditary spherocytosisY Xu, W Yang, L Liao, Z Deng, Y Qiu, W Chen, F Lin. European Journal of Haematology 96 (2),170-174.16.2016.
[11] Comparison and evaluation of three screening tests of hereditary spherocytosis in Chinese patients. Y Tao, Z Deng,L Liao, Y Qiu, W Chen, F Lin. Annals of Hematology 94 (5),747- 751 16 2015.
[12] Evaluation of a flow-cytometric osmotic fragility test for hereditary spherocytosis in Chinese patients. YF Tao, ZF Deng, L Liao, YL Qiu, XL Deng, WQ Chen, FQ Lin. Acta Haemat ologica 135(2),88-93 13 2016.
[13] Blood cell parameters for screening and diagnosis of hereditary spherocytosis. L Liao, Y Xu, H Wei, Y Qiu, W Chen, JHuang, Y Tao, X Deng, Z Deng. Journal of clinical laboratory ana lysis 33(4),e22844 11 2019.
[14] Raman characterizations of red blood cells with β-thalassemia using laser tweezers Raman spectroscopy. W Jia, P Chen, W Chen, Y Li.Medicine 97(39)2018.
[15] 陈文强,陈萍,庞丽红,等.应用Taqman-MGB探针法检测地中海贫血Hb Westmead突变[J].重庆医学,2012,41(32):3408-3409,3411.
[16] Cappellini MD, Cohen A, Porter J, Taher A, Viprakasit V (eds). Guidelines for the Management of Transfusion Dependent Thalassaemia (TDT), 3rd edn. 2014 TIF Publication No.20. Thalassaemia International Federation: Nicosia, Cyprus.
[17] Cazzola M. Borgna-Pignatti C. Locatelli F. Ponchio L. Beguin Y. De Stefano P. A moderate transfusion regimen may reduce iron loading in beta-thalassemia major without produc ing excessive expansion of erythropoiesis. Transfusion. 1997; 37:135-140.
[18] Galanello R. Campus S. Deferiprone chelation therapy for thalassemia major. Acta Haematol. 2009; 122: 155-164.
[19] Borgna-Pignatti C. Cappellini M.D. De Stefano P. Cardiac morbidity and mortality in deferoxamine- or deferiprone-treated patients with thalassemia major.Blood.2006;107:3733-3737.
[20] Farmaki K. Tzoumari I. Pappa C. Oral chelators in transfusion-dependent thalassemia major patients may preve nt or reverse iron overload complications. Blood Cells Mol Dis.2011;47:33-40.
[21] HYPERION Investigators Effects of deferasirox-defer oxamine on myocardial and liver iron in patients with severe transfusional iron overload. Blood.2015;125:3868-3877.
[22] Elalfy M.S. Adly A.M. Wali Y. Tony S. Samir A. Elhenawy Y.I. Efficacy and safety of a novel combination of two oral chelators deferasirox/deferiprone over deferoxamine/deferi prone in severely iron overloaded young beta thalassemia major patients. Eur J Haematol.2015;95:411-420.
[23] Taher A.T. Musallam K.M. Karimi M. Splenectomy and thrombosis: the case of thalassemia intermedia. J Thromb Haemost.2010;8:2152-2158.
[24] Olivieri N.F. Muraca G.M. O’Donnell A. Premawardhena A. Fisher C. Weatherall D.J. Studies in haemoglobin E betathalassaemia Br JHaematol.2008;141:388-397.
[25] Lucarelli G. Galimberti M.Polchi P. Marrow transpla ntation in patients with thalassemia responsive to iron chela tion therapy. N Engl J Med.1993;329: 840-844
[26] Isgrò A. Gaziev J. Sodani P. Lucarelli G. Progress in hematopoietic stem cell transplantation as allogeneic cellular gene therapy in thalassemia. Ann NY Acad Sci.2010;1202:149-154.
[27] Gaziev J. Marziali M. Isgrò A. Bone marrow transpla ntation for thalassemia from alternative related donors: improved outcomes with a new approach. Blood. 2013;122:2751-2756.
[28] Eurocord and European Blood and Marrow Transplant ation (EBMT) group. Outcome of patients with hemoglobinop athies given either cord blood or bone marrow transplantation from an HLA-identical sibling. Blood.2013;122:1072-1078.
[29] Baronciani D. Angelucci E.Potschger U. Hemopoietic stem cell transplantation in thalassemia: a report from the European Society for Blood and Bone Marrow Transplantation Hemoglobinopathy Registry, 2000-2010. Bone Marrow Transplant.2016;51:536-541.
[30] Negre O. Eggimann A.V. Beuzard Y. Gene therapy of the β-hemoglobinopathies by lentiviral transfer of the β(A(T87 Q))-globin gene. Hum Gene Ther. 2016;27:148-165.
[31] Cottle R.N. Lee C.M. Bao G. Treating hemoglobinopa thies using gene-correction approaches: promises and challen ges. Hum Genet. 2016;135:993-1010.
[32] Musallam K.M. Taher A.T. Cappellini M.D. Sankaran V.G. Clinical experience with fetal hemoglobin induction therapy in patients with β-thalassemia. Blood. 2013;121:2199-212; quiz 2372.
[33] 陈文强,陈萍,朱恒莹.应用铁过载小鼠模型筛选铁代谢相关miRNA的研究[J].卫生研究,2018,47(4):673-675.
[34] Suragani R.N. Cawley S.M. Li R. Modifie d activin rece ptor IIB ligand trap mitigates ineffective erythropoiesis and disease complications in murine β-thalassemia.Blood. 2014; 123:3864-3872.
[35] Breda L. Rivella S. Modulators of erythropoiesis: emer ging therapies for hemoglobinopathies and disorders of red cell production. Hematol Oncol Clin North Am.2014;28:375-386.
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