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1
Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation.先天性红细胞生成异常性贫血的干细胞移植：来自欧洲血液与骨髓移植学会的分析
Haematologica. 2019 Aug;104(8):e335-e339. doi: 10.3324/haematol.2018.206623. Epub 2019 Jan 24.
2
Improved graft-versus-host disease-free, relapse-free survival associated with bone marrow as the stem cell source in adults.在成人中，以骨髓作为干细胞来源可改善无移植物抗宿主病、无复发的生存率。
Haematologica. 2016 Jun;101(6):764-72. doi: 10.3324/haematol.2015.138990. Epub 2016 Apr 1.
3
Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation.异基因干细胞移植成功治疗输血依赖型I型先天性红细胞生成异常性贫血。
Bone Marrow Transplant. 2002 Apr;29(8):681-2. doi: 10.1038/sj.bmt.1703526.
4
Allogeneic unrelated bone marrow transplantation from older donors results in worse prognosis in recipients with aplastic anemia.来自老年供者的异基因非血缘骨髓移植会导致再生障碍性贫血受者的预后更差。
Haematologica. 2016 May;101(5):644-52. doi: 10.3324/haematol.2015.139469. Epub 2016 Feb 8.
5
Hematopoietic stem cell transplantation in children with genetic defects.患有遗传缺陷儿童的造血干细胞移植
Indian Pediatr. 2009 Mar;46(3):241-3. Epub 2009 Jan 21.
6
Non-myeloablative allogeneic hematopoietic cell transplantation for relapsed or refractory Waldenström macroglobulinemia: evidence for a graft--lymphoma effect.非清髓性异基因造血细胞移植治疗复发或难治性华氏巨球蛋白血症：移植物-淋巴瘤效应的证据
Haematologica. 2018 Jun;103(6):e252-e255. doi: 10.3324/haematol.2017.184176. Epub 2018 Mar 15.
7
Stem Cell Transplantation in Aplastic Anaemia.再生障碍性贫血中的干细胞移植
J Assoc Physicians India. 2015 Mar;63(3 Suppl):21-5.
8
Outcomes of allogeneic stem cell transplantation in patients with paroxysmal nocturnal hemoglobinuria with or without aplastic anemia.阵发性睡眠性血红蛋白尿症伴或不伴再生障碍性贫血患者异基因造血干细胞移植的结局。
Eur J Haematol. 2017 Oct;99(4):336-343. doi: 10.1111/ejh.12922. Epub 2017 Jul 25.
9
Expanding Therapeutic Opportunities for Hematopoietic Stem Cell Transplantation: T Cell Depletion as a Model for the Targeted Allograft.拓展造血干细胞移植的治疗机会：以 T 细胞耗竭为例探讨靶向同种异体移植。
Annu Rev Med. 2019 Jan 27;70:381-393. doi: 10.1146/annurev-med-120617-041210. Epub 2018 Oct 25.
10
Four decades of stem cell transplantation for Fanconi anaemia in the Netherlands.荷兰范可尼贫血症的四十年干细胞移植历程。
Br J Haematol. 2016 Sep;174(6):952-61. doi: 10.1111/bjh.14165. Epub 2016 Jul 29.

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1
Hematopoietic Stem Cell Transplant of a Congenital Dyserythropoietic Anemia Type II Patient: A Rare Report from the Indian Population.一名II型先天性红细胞生成异常性贫血患者的造血干细胞移植：来自印度人群的罕见报告。
Indian J Hematol Blood Transfus. 2025 Jan;41(1):194-196. doi: 10.1007/s12288-024-01796-w. Epub 2024 Jul 10.
2
Hematopoietic cell transplantation for congenital dyserythropoietic anemia IV caused by compound heterozygous KLF1 mutations.针对由复合杂合性KLF1突变引起的先天性红细胞生成异常性贫血IV型进行造血细胞移植。
Ann Hematol. 2023 Jun;102(6):1621-1624. doi: 10.1007/s00277-023-05175-9. Epub 2023 Mar 31.
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Inherited bone marrow failure in the pediatric patient.儿童患者的遗传性骨髓衰竭。
Blood. 2022 Aug 11;140(6):556-570. doi: 10.1182/blood.2020006481.
4
Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.先天性红细胞生成异常性贫血Ⅱ型中 SEC23B 基因两个新突变的复合杂合性。
Int J Hematol. 2021 Sep;114(3):390-394. doi: 10.1007/s12185-021-03155-1. Epub 2021 Apr 29.
5
Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).I型先天性红细胞生成异常性贫血：来自北美先天性红细胞生成异常性贫血登记处（CDAR）的首次报告。
Blood Cells Mol Dis. 2021 Mar;87:102534. doi: 10.1016/j.bcmd.2020.102534. Epub 2020 Dec 24.
6
Recommendations for Pregnancy in Rare Inherited Anemias.罕见遗传性贫血患者妊娠的建议。
Hemasphere. 2020 Aug 12;4(4):e446. doi: 10.1097/HS9.0000000000000446. eCollection 2020 Aug.

本文引用的文献

1
Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia.非清髓性异基因干细胞移植联合移植后环磷酰胺治愈首例先天性红细胞生成异常性贫血成年患者。
Bone Marrow Transplant. 2017 Jun;52(6):905-906. doi: 10.1038/bmt.2017.17. Epub 2017 Mar 20.
2
Diagnosis and management of congenital dyserythropoietic anemias.先天性红细胞生成异常性贫血的诊断与管理
Expert Rev Hematol. 2016 Mar;9(3):283-96. doi: 10.1586/17474086.2016.1131608. Epub 2016 Jan 6.
3
Successful Allogeneic Hematopoietic Stem Cell Transplantation of a Patient Suffering from Type II Congenital Dyserythropoietic Anemia A Rare Case Report from Western India.一名患有II型先天性红细胞生成异常性贫血患者的异基因造血干细胞移植成功：来自印度西部的罕见病例报告
Case Rep Hematol. 2015;2015:792485. doi: 10.1155/2015/792485. Epub 2015 Jan 26.
4
Hematopoietic stem cell transplantation in thalassemia major and sickle cell disease: indications and management recommendations from an international expert panel.重型地中海贫血和镰状细胞病的造血干细胞移植：国际专家小组的适应证及管理建议
Haematologica. 2014 May;99(5):811-20. doi: 10.3324/haematol.2013.099747.
5
Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.一名II型先天性红细胞生成异常性贫血患者成功进行造血干细胞移植。
Pediatr Transplant. 2014 Jun;18(4):E130-3. doi: 10.1111/petr.12254. Epub 2014 Apr 12.
6
Successful treatment of an infant with CDA type II by intrauterine transfusions and postnatal stem cell transplantation.通过宫内输血和产后干细胞移植成功治疗 II 型 CDA 婴儿。
Pediatr Blood Cancer. 2014 Apr;61(4):743-5. doi: 10.1002/pbc.24786. Epub 2013 Oct 3.
7
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.SEC23B 基因中的两个 founder 突变解释了意大利人群中 CDA II 的相对高发率。
Am J Hematol. 2011 Sep;86(9):727-32. doi: 10.1002/ajh.22096.
8
Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload.先天性红细胞生成异常性贫血合并铁过载患者的非亲缘造血干细胞移植
Pediatr Transplant. 2012 May;16(3):E69-73. doi: 10.1111/j.1399-3046.2010.01414.x. Epub 2010 Nov 26.
9
Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1).一名患有视网膜血管样条纹的白种人患者（编码蛋白1存在纯合子Arg1042Trp突变）的I型先天性红细胞生成异常性贫血。
Eur J Haematol. 2008 Mar;80(3):271-4. doi: 10.1111/j.1600-0609.2007.01004.x. Epub 2007 Dec 7.
10
Congenital dyserythropoietic anemia type I with bone abnormalities, mutations of the CDAN I gene, and significant responsiveness to alpha-interferon therapy.伴有骨骼异常、CDAN I基因突变且对α-干扰素治疗有显著反应的I型先天性红细胞生成异常性贫血
Ann Hematol. 2006 Sep;85(9):591-5. doi: 10.1007/s00277-006-0143-z. Epub 2006 Jun 10.

Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation.

作者信息

Miano Maurizio, Eikema Dirk-Jan, Aljurf Mahmoud, Van't Veer Pieter J, Öztürk Gülyüz, Wölfl Matthias, Smiers Frans, Schulz Angsar, Socié Gerard, Vettenranta Kim, de Heredia Cristina Diaz, Zecca Marco, Maertens Johan, Rovira Montserrat, Sierra Jorge, Uckan-Cetinkaya Duygu, Skorobogatova Elena, Antmen Ali Bülent, Dalle Jean-Hugues, Markiewicz Miroslaw, Hamladji Rose Marie, Kitra-Roussou Vassiliki, La Nasa Giorgio, Kriván Gergely, Al-Seiraihy Amal, Giardino Stefano, Risitano Antonio Maria, de Latour Regis Peffault, Dufour Carlo

机构信息

Hematology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy

EBMT Statistical Unit, Leiden, Leiden, the Netherlands.

出版信息

Haematologica. 2019 Aug;104(8):e335-e339. doi: 10.3324/haematol.2018.206623. Epub 2019 Jan 24.

DOI:10.3324/haematol.2018.206623
PMID:
30679331
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6669146/
Abstract
摘要