中国儿童输血依赖型地中海贫血输血管理指南(2025年)

中国妇幼保健协会地中海贫血防治专业委员会, 中华医学会儿科学分会血液学组, 全国地中海贫血防治协作网, 《中国当代儿科杂志》编辑委员会

中国当代儿科杂志 ›› 2025, Vol. 27 ›› Issue (5) : 505-514.

PDF(653 KB)
HTML
PDF(653 KB)
HTML
中国当代儿科杂志 ›› 2025, Vol. 27 ›› Issue (5) : 505-514. DOI: 10.7499/j.issn.1008-8830.2410119
标准·方案·指南

中国儿童输血依赖型地中海贫血输血管理指南(2025年)

作者信息 +

Guideline for transfusion management in Chinese children with transfusion-dependent thalassemia (2025)

Author information +
文章历史 +

摘要

地中海贫血是一组由于血红蛋白合成障碍导致无效红细胞生成的遗传性疾病,临床表现为轻重不等的慢性贫血。输血依赖型地中海贫血患者终生依赖规律输血和祛铁治疗,规范的输血治疗和正确的输血并发症处理可以保证儿童患者的生长发育和提高患者的生存质量。该指南制订工作组参考国内外指南、专家共识和相关研究,形成这部指南,旨在进一步规范我国儿童输血依赖型地中海贫血的输血管理。

Abstract

Thalassemia is a group of hereditary disorders characterized by ineffective erythropoiesis due to hemoglobin synthesis abnormalities, resulting in varying degrees of chronic anemia. Patients with transfusion-dependent thalassemia rely on lifelong regular blood transfusions and iron chelation therapy. Proper transfusion treatment and management of transfusion-related complications are essential to ensure the growth and development of pediatric patients and to improve their quality of life. The guideline working group has developed the guideline by referencing domestic and international guidelines, expert consensus, and relevant studies. The aim is to further standardize the transfusion management of transfusion-dependent thalassemia in children in China.

关键词

输血依赖型地中海贫血 / 输血 / 管理 / 指南 / 儿童

Key words

Transfusion-dependent thalassemia / Blood transfusion / Management / Guideline / Child

引用本文

导出引用
中国妇幼保健协会地中海贫血防治专业委员会, 中华医学会儿科学分会血液学组, 全国地中海贫血防治协作网, . 中国儿童输血依赖型地中海贫血输血管理指南(2025年)[J]. 中国当代儿科杂志. 2025, 27(5): 505-514 https://doi.org/10.7499/j.issn.1008-8830.2410119
Committee of Thalassemia Prevention and Treatment, China Maternal and Child Health Association, Subspecialty Group of Hematology, Society of Pediatrics, Chinese Medical Association, China Thalasemia Prevention and ControlCollaboration Network, et al. Guideline for transfusion management in Chinese children with transfusion-dependent thalassemia (2025)[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(5): 505-514 https://doi.org/10.7499/j.issn.1008-8830.2410119

参考文献

1
Taher AT, Musallam KM, Cappellini MD. β-Thalassemias[J]. N Engl J Med, 2021, 384(8): 727-743. DOI: 10.1056/NEJMra2021838 .
2
吴学东, 陈纯, 何岳林. 地中海贫血祛铁治疗技术操作指南[M]. 北京: 人民卫生出版社, 2023.
3
Farmakis D, Porter J, Taher A, et al. 2021 Thalassaemia International Federation guidelines for the management of transfusion-dependent thalassemia[J]. HemaSphere, 2022, 6(8): e732. PMCID: PMC9345633. DOI: 10.1097/HS9.0000000000000732 .
4
中华医学会医学遗传学分会遗传病临床实践指南撰写组. β-地中海贫血的临床实践指南[J]. 中华医学遗传学杂志, 2020, 37(3): 243-251. DOI: 10.3760/cma.j.issn.1003-9406.2020.03.004 .
5
中国输血协会免疫血液学专业委员会. 输血依赖型地中海贫血(TDT)患者临床输血中国专家共识[J]. 临床输血与检验, 2023, 25(2): 163-169. DOI: 10.3969/j.issn.1671-2587.2023.02.002 .
6
中华医学会血液学分会红细胞疾病(贫血)学组. 中国输血依赖型β地中海贫血诊断与治疗指南(2022年版)[J]. 中华血液学杂志, 2022, 43(11): 889-896. PMCID: PMC9808868. DOI: 10.3760/cma.j.issn.0253-2727.2022.11.002 .
7
中华医学会儿科学分会血液学组, 《中华儿科杂志》编辑委员会. 重型β地中海贫血的诊断和治疗指南(2017年版)[J]. 中华儿科杂志, 2018, 56(10): 724-729. DOI: 10.3760/cma.j.issn.0578-1310.2018.10.002 .
8
Guyatt GH, Oxman AD, Vist GE, 等. GRADE: 证据质量和推荐强度分级的共识[J]. 中国循证医学杂志, 2009, 9(1): 8-11. DOI: 10.3969/j.issn.1672-2531.2009.01.005 .
9
Guyatt GH, Alonso-Coello P, Schünemann HJ, et al. Guideline panels should seldom make good practice statements: guidance from the GRADE working group[J]. J Clin Epidemiol, 2016, 80: 3-7. DOI: 10.1016/j.jclinepi.2016.07.006 .
10
Cazzola M, Borgna-Pignatti C, Locatelli F, et al. A moderate transfusion regimen may reduce iron loading in beta-thalassemia major without producing excessive expansion of erythropoiesis[J]. Transfusion, 1997, 37(2): 135-140. DOI: 10.1046/j.1537-2995.1997.37297203514.x .
11
Cazzola M, De Stefano P, Ponchio L, et al. Relationship between transfusion regimen and suppression of erythropoiesis in beta-thalassaemia major[J]. Br J Haematol, 1995, 89(3): 473-478. DOI: 10.1111/j.1365-2141.1995.tb08351.x .
12
Pasricha SR, Frazer DM, Bowden DK, et al. Transfusion suppresses erythropoiesis and increases hepcidin in adult patients with β-thalassemia major: a longitudinal study[J]. Blood, 2013, 122(1): 124-133. DOI: 10.1182/blood-2012-12-471441 .
13
Atmakusuma TD, Saragih EYP, Rajabto W. Achievement of pre- and post-transfusion hemoglobin levels in adult transfusion-dependent beta thalassemia: associated factors and relationship to reduction of spleen enlargement[J]. Int J Gen Med, 2021, 14: 7515-7521.
14
Piomelli S, Hart D, Graziano J, et al. Current strategies in the management of Cooley's anemia[J]. Ann N Y Acad Sci, 1985, 445: 256-267. DOI: 10.1111/j.1749-6632.1985.tb17195.x .
15
Propper RD, Button LN, Nathan DG. New approaches to the transfusion management of thalassemia[J]. Blood, 1980, 55(1): 55-60.
16
Musallam KM, Barella S, Origa R, et al. Pretransfusion hemoglobin level and mortality in adults with transfusion-dependent β-thalassemia[J]. Blood, 2024, 143(10): 930-932. DOI: 10.1182/blood.2023022460 .
17
Coates TD. Higher hemoglobin is better in thalassemia[J]. Blood, 2024, 143(10): 842-844. DOI: 10.1182/blood.2023023294 .
18
Hapgood G, Walsh T, Cukierman R, et al. Erythropoiesis is not equally suppressed in transfused males and females with β-thalassemia major: are there clinical implications?[J]. Haematologica, 2015, 100(8): e292-e294. PMCID: PMC5004427. DOI: 10.3324/haematol.2014.118216 .
19
Children's Hospital & Research Center Oakland. Standards of care guidelines for thalassemia[EB/OL]. [2024-12-25].
20
中华人民共和国卫生部. 关于印发《临床输血技术规范》的通知: 卫医发[2000]  184号[EB/OL]. (2001-11-08)[2024-12-25].
21
中华人民共和国卫生部. 医疗机构临床用血管理办法: 卫生部令第85号[EB/OL]. (2012-06-12)[2024-12-25].
22
Trompeter S, Massey E, Robinson S, et al. Position paper on international collaboration for transfusion medicine (ICTM) guideline 'red blood cell specifications for patients with hemoglobinopathies: a systematic review and guideline'[J]. Br J Haematol, 2020, 189(3): 424-427. DOI: 10.1111/bjh.16405 .
23
马婷, 杨江存, 宋耀军, 等. 51 283例住院患者与献血者Rh血型分布和分析[J]. 细胞与分子免疫学杂志, 2018, 34(1): 70-74. DOI: 10.13423/j.cnki.cjcmi.008551 .
24
严康峰, 马伟文, 莫锦政, 等. 番禺区无偿献血人群中Rh血型系统分布情况及应用研究[J]. 江西医学检验, 2002, 20(4): 239-240. DOI: 10.3969/j.issn.1674-1129.2002.04.023 .
25
申卫东, 周燕, 唐秋民, 等. 南宁市无偿献血人群Rh血型表型分布调查[J]. 广西医学, 2010, 32(2): 151-153. DOI: 10.3969/j.issn.0253-4304.2010.02.007 .
26
姚润, 凌晗, 李碧娟. Rh血型系统与我国Rh抗原分布[J]. 临床血液学杂志, 2017, 30(12): 985-988. DOI: 10.13201/j.issn.1004-2806-b.2017.12.026 .
27
孙爱农, 段生宝, 易峰, 等. Mur血型抗原抗体调查及应用研究[J]. 中国输血杂志, 2017, 30(6): 586-589. DOI: 10.13303/j.cjbt.issn.1004-549x.2017.06.009 .
28
黄秀琼, 陈丽琼, 钮荣祥, 等. 云南怒族稀有血型MNSs系统:(Mur)抗原抽样调查分析[J]. 大理学院学报, 2004, 3(1): 39-40. DOI: 10.3969/j.issn.1672-2345.2004.01.018 .
29
焦伟, 黎海澜, 王晨, 等. 广西壮族人群稀有血型筛选[J]. 现代免疫学, 2011, 31(5): 401-404.
30
Yu Y, Ma C, Sun X, et al. Frequencies of red blood cell major blood group antigens and phenotypes in the Chinese Han population from Mainland of China[J]. Int J Immunogenet, 2016, 43(4): 226-235. DOI: 10.1111/iji.12277 .
31
Thakral B, Saluja K, Sharma RR, et al. Phenotype frequencies of blood group systems (Rh, Kell, Kidd, Duffy, MNS, P, Lewis, and Lutheran) in north Indian blood donors[J]. Transfus Apher Sci, 2010, 43(1): 17-22. DOI: 10.1016/j.transci.2010.05.006 .
32
Musa RH, Ahmed SA, Hashim H, et al. Red cell phenotyping of blood from donors at the national blood center of Malaysia[J]. Asian J Transfus Sci, 2012, 6(1): 3-9. PMCID: PMC3353626. DOI: 10.4103/0973-6247.95042 .
33
邱进, 陈伟, 李菲, 等. 新疆地区维吾尔族人群Rh、Kell血型抗原分布频率调查及Kell阳性个体分子机制研究[J]. 中国输血杂志, 2022, 35(10): 1009-1013. DOI: 10.13303/j.cjbt.issn.1004-549x.2022.10.003 .
34
Chen C, Tan J, Wang L, et al. Unexpected red blood cell antibody distributions in Chinese people by a systematic literature review[J]. Transfusion, 2016, 56(4): 975-979. DOI: 10.1111/trf.13430 .
35
Bakanay SM, Ozturk A, Ileri T, et al. Blood group genotyping in multi-transfused patients[J]. Transfus Apher Sci, 2013, 48(2): 257-261. DOI: 10.1016/j.transci.2013.01.009 .
36
Eftekhar Z, Oodi A, Amirizadeh N, et al. Molecular genotyping versus serological diagnosis for RH blood group typing in sickle cell patients[J]. Expert Rev Clin Immunol, 2024, 20(11): 1421-1426. DOI: 10.1080/1744666X.2024.2388700 .
37
Gholami MS, Shahidi M, Tabibian S, et al. Genotyping of blood groups in alloimmunized patients with β-thalassemia major by T-ARMS-PCR and multiplex-aso-pcr[J]. Transfus Apher Sci, 2021, 60(1): 102984. DOI: 10.1016/j.transci.2020.102984 .
38
Shao CP, Zhao CJ, Wu CL, et al. Rh-matched transfusion through molecular typing for β-thalassemia patients is required and feasible in Chinese[J]. Transfus Med Hemother, 2018, 45(4): 252-257. PMCID: PMC6158581. DOI: 10.1159/000489471 .
39
中华人民共和国国家卫生健康委员会. 输血相容性检测标准: WS/T 794-2022 [S]. 北京: 中国标准出版社, 2022.
40
Dunbar NM. Current options for transfusion-related acute lung injury risk mitigation in platelet transfusions[J]. Curr Opin Hematol, 2015, 22(6): 554-558. DOI: 10.1097/MOH.0000000000000187 .
41
Pujani M, Pahuja S, Dhingra B, et al. Alloimmunisation in thalassaemics: a comparison between recipients of usual matched and partial better matched blood. An evaluation at a tertiary care centre in India[J]. Blood Transfus, 2014, 12(Suppl 1): s100-s104. PMCID: PMC3934288. DOI: 10.2450/2012.0154-12 .
Suppl 1
42
Teawtrakul N, Songdej D, Hantaweepant C, et al. Red blood cell alloimmunization and other transfusion-related complications in patients with transfusion-dependent thalassemia: a multi-center study in Thailand[J]. Transfusion, 2022, 62(10): 2039-2047. PMCID: PMC9560980. DOI: 10.1111/trf.17068 .
43
Vichinsky E, Neumayr L, Trimble S, et al. Transfusion complications in thalassemia patients: a report from the centers for disease control and prevention (CME)[J]. Transfusion, 2014, 54(4): 972-981; quiz 971. PMCID: PMC4410835. DOI: 10.1111/trf.12348 .
44
Franchini M, Forni GL, Marano G, et al. Red blood cell alloimmunisation in transfusion-dependent thalassaemia: a systematic review[J]. Blood Transfus, 2019, 17(1): 4-15. PMCID: PMC6343597. DOI: 10.2450/2019.0229-18 .
45
Tormey CA, Stack G. The persistence and evanescence of blood group alloantibodies in men[J]. Transfusion, 2009, 49(3): 505-512. DOI: 10.1111/j.1537-2995.2008.02014.x .
46
Lal A, Wong TE, Andrews J, et al. Transfusion practices and complications in thalassemia[J]. Transfusion, 2018, 58(12): 2826-2835. DOI: 10.1111/trf.14875 .
47
Schonewille H, van de Watering LM, Brand A. Additional red blood cell alloantibodies after blood transfusions in a nonhematologic alloimmunized patient cohort: is it time to take precautionary measures?[J]. Transfusion, 2006, 46(4): 630-635. DOI: 10.1111/j.1537-2995.2006.00764.x .
48
Lal A. Challenges in chronic transfusion for patients with thalassemia[J]. Hematology Am Soc Hematol Educ Program, 2020, 2020(1): 160-166. PMCID: PMC7727587. DOI: 10.1182/hematology.2020000102 .
49
Waldis SJ, Uter S, Kavitsky D, et al. Rh alloimmunization in chronically transfused patients with thalassemia receiving RhD, C, E, and K matched transfusions[J]. Blood Adv, 2021, 5(3): 737-744. PMCID: PMC7876880. DOI: 10.1182/bloodadvances.2020003732 .
50
中华人民共和国国家卫生健康委员会. 儿科输血指南: WS/T 795-2022 [S]. 北京: 中国标准出版社, 2022.
51
Yomtovian R, Gernsheimer T, Assmann SF, et al. WBC reduction in RBC concentrates by prestorage filtration: multicenter experience[J]. Transfusion, 2001, 41(8): 1030-1036. DOI: 10.1046/j.1537-2995.2001.41081030.x .
52
Mishima Y, Tsuno NH, Matsuhashi M, et al. Effects of universal vs bedside leukoreductions on the alloimmunization to platelets and the platelet transfusion refractoriness[J]. Transfus Apher Sci, 2015, 52(1): 112-121. DOI: 10.1016/j.transci.2014.11.001 .
53
Paglino JC, Pomper GJ, Fisch GS, et al. Reduction of febrile but not allergic reactions to RBCs and platelets after conversion to universal prestorage leukoreduction[J]. Transfusion, 2004, 44(1): 16-24. DOI: 10.1046/j.0041-1132.2004.00608.x .
54
King KE, Shirey RS, Thoman SK, et al. Universal leukoreduction decreases the incidence of febrile nonhemolytic transfusion reactions to RBCs[J]. Transfusion, 2004, 44(1): 25-29. DOI: 10.1046/j.0041-1132.2004.00609.x .
55
Lal A, Wong T, Keel S, et al. The transfusion management of beta thalassemia in the United States[J]. Transfusion, 2021, 61(10): 3027-3039. PMCID: PMC9292563. DOI: 10.1111/trf.16640 .
56
Foukaneli T, Kerr P, Bolton-Maggs PHB, et al. Guidelines on the use of irradiated blood components[J]. Br J Haematol, 2020, 191(5): 704-724. DOI: 10.1111/bjh.17015 .
57
Goss C, Giardina P, Degtyaryova D, et al. Red blood cell transfusions for thalassemia: results of a survey assessing current practice and proposal of evidence-based guidelines[J]. Transfusion, 2014, 54(7): 1773-1781. DOI: 10.1111/trf.12571 .
58
Martínez-Hernández JP, López-Mora YA, Salazar-Riojas R, et al. Reassessing blood product irradiation in haploidentical transplantation: a single-center perspective[J]. Hematology, 2024, 29(1): 2420144. DOI: 10.1080/16078454.2024.2420144 .
59
Wolf J, Blais-Normandin I, Bathla A, et al. Red cell specifications for blood group matching in patients with haemoglobinopathies: an updated systematic review and clinical practice guideline from the International Collaboration for Transfusion Medicine Guidelines[J]. Br J Haematol, 2025, 206(1): 94-108. PMCID: PMC11739758. DOI: 10.1111/bjh.19837 .
60
Davies P, Robertson S, Hegde S, et al. Calculating the required transfusion volume in children[J]. Transfusion, 2007, 47(2): 212-216. DOI: 10.1111/j.1537-2995.2007.01091.x .
61
Armstrong B. Transfusion risks and hemovigilance[EB/OL]. (2020-12-11)[2024-12-25].
62
Dzik WH, Anderson JK, O'Neill EM, et al. A prospective, randomized clinical trial of universal WBC reduction[J]. Transfusion, 2002, 42(9): 1114-1122. DOI: 10.1046/j.1537-2995.2002.00182.x .
63
Yazer MH, Podlosky L, Clarke G, et al. The effect of prestorage WBC reduction on the rates of febrile nonhemolytic transfusion reactions to platelet concentrates and RBC[J]. Transfusion, 2004, 44(1): 10-15. DOI: 10.1046/j.0041-1132.2003.00518.x .
64
Sanders RP, Maddirala SD, Geiger TL, et al. Premedication with acetaminophen or diphenhydramine for transfusion with leucoreduced blood products in children[J]. Br J Haematol, 2005, 130(5): 781-787. DOI: 10.1111/j.1365-2141.2005.05670.x .
65
Kennedy LD, Case LD, Hurd DD, et al. A prospective, randomized, double-blind controlled trial of acetaminophen and diphenhydramine pretransfusion medication versus placebo for the prevention of transfusion reactions[J]. Transfusion, 2008, 48(11): 2285-2291. DOI: 10.1111/j.1537-2995.2008.01858.x .
66
Cardona V, Ansotegui IJ, Ebisawa M, et al. World allergy organization anaphylaxis guidance 2020[J]. World Allergy Organ J, 2020, 13(10): 100472. PMCID: PMC7607509. DOI: 10.1016/j.waojou.2020.100472 .
67
Panch SR, Montemayor-Garcia C, Klein HG. Hemolytic transfusion reactions[J]. N Engl J Med, 2019, 381(2): 150-162. DOI: 10.1056/NEJMra1802338 .
68
Chou ST, Alsawas M, Fasano RM, et al. American Society of Hematology 2020 guidelines for sickle cell disease: transfusion support[J]. Blood Adv, 2020, 4(2): 327-355. PMCID: PMC6988392. DOI: 10.1182/bloodadvances.2019001143 .
69
Gardner K, Hoppe C, Mijovic A, et al. How we treat delayed haemolytic transfusion reactions in patients with sickle cell disease[J]. Br J Haematol, 2015, 170(6): 745-756. DOI: 10.1111/bjh.13494 .
70
Siddon AJ, Kenney BC, Hendrickson JE, et al. Delayed haemolytic and serologic transfusion reactions: pathophysiology, treatment and prevention[J]. Curr Opin Hematol, 2018, 25(6): 459-467. DOI: 10.1097/MOH.0000000000000462 .

编委: 邓芳明

版权

版权所有 © 2023中国当代儿科杂志
PDF(653 KB)
HTML

Accesses

Citation

Detail

段落导航
相关文章

/