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Diamond-Blackfan贫血

Diamond-Blackfan anemia

ORPHA:124疾病中国目录 第1批 · 25

定义 英文原文（暂无中文）

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

别名

先天性再生不良性贫血，Blackfan-Diamond型

基本事实

遗传方式
常染色体显性
发病年龄
儿童期、婴儿期、新生儿期
患病率
1-9 / 1 000 000（Europe）

相关基因 26

基因名称关联类型
RPS19ribosomal protein S19Disease-causing germline mutation(s) in
RPS24ribosomal protein S24Disease-causing germline mutation(s) in
GATA1GATA binding protein 1Disease-causing germline mutation(s) (loss of function) in
RPS17ribosomal protein S17Disease-causing germline mutation(s) in
RPS7ribosomal protein S7Disease-causing germline mutation(s) in
RPL5ribosomal protein L5Disease-causing germline mutation(s) in
RPL11ribosomal protein L11Disease-causing germline mutation(s) in
RPL35Aribosomal protein L35aDisease-causing germline mutation(s) in
RPS10ribosomal protein S10Disease-causing germline mutation(s) in
RPS26ribosomal protein S26Disease-causing germline mutation(s) in
RPL26ribosomal protein L26Disease-causing germline mutation(s) in
RPL15ribosomal protein L15Disease-causing germline mutation(s) in
ADA2adenosine deaminase 2Disease-causing germline mutation(s) in
RPS29ribosomal protein S29Disease-causing germline mutation(s) (loss of function) in
TSR2TSR2 ribosome maturation factorDisease-causing germline mutation(s) (loss of function) in
RPS28ribosomal protein S28Disease-causing germline mutation(s) (loss of function) in
RPS20ribosomal protein S20Disease-causing germline mutation(s) in
RPL27ribosomal protein L27Candidate gene tested in
RPL31ribosomal protein L31Candidate gene tested in
RPL9ribosomal protein L9Disease-causing germline mutation(s) in
RPS27ribosomal protein S27Candidate gene tested in
RPL35ribosomal protein L35Disease-causing germline mutation(s) in
RPL18ribosomal protein L18Disease-causing germline mutation(s) in
RPS15Aribosomal protein S15aDisease-causing germline mutation(s) (loss of function) in
HEATR3HEAT repeat containing 3Disease-causing germline mutation(s) in
RPL8ribosomal protein L8Disease-causing germline mutation(s) (loss of function) in

临床表型 59

极常见 99–80%2

  • 红细胞腺苷脱氨酶活性升高 HP:0030270
  • 纯红细胞再生障碍性贫血 HP:0012410

常见 79–30%10

  • 头部异常 HP:0000234
  • 红系发育不良 HP:0012133
  • 生长延迟 HP:0001510
  • 平均红细胞体积增加 HP:0005518
  • 昏睡 HP:0001254
  • 大细胞性红细胞生成异常性贫血 HP:0005532
  • 苍白圈 HP:0000980
  • 胎儿血红蛋白F持续存在 HP:0011904
  • 网织细胞减少症 HP:0001896
  • 小于胎龄儿 HP:0001518

偶见 29–5%25

  • 心脏形态异常 HP:0001627
  • 泌尿生殖系统异常 HP:0000119
  • 大鱼际异常 HP:0001227
  • 上肢异常 HP:0002817
  • 拇指缺如 HP:0009777
  • 房间隔缺损 HP:0001631
  • 唇裂 HP:0410030
  • 软腭裂 HP:0000185
  • 高腭 HP:0000218
  • 马蹄肾 HP:0000085
  • 尿道下裂 HP:0000047
  • 白细胞减少症 HP:0001882
  • 骨髓增生异常 HP:0002863
  • 神经发育延迟 HP:0012758
  • 正色素性贫血 HP:0001895
  • 拇指指骨部分重复 HP:0009944
  • 桡动脉未发育 HP:0020118
  • 肾缺如 HP:0000104
  • 短颈 HP:0000470
  • 身材矮小 HP:0004322
  • 短拇指 HP:0009778
  • 先天性肩胛骨向上移位（Sprengel畸形） HP:0000912
  • 三指节拇指 HP:0001199
  • 室间隔缺损 HP:0001629
  • 蹼颈 HP:0000465

罕见 <4–1%22

  • 急性髓性白血病 HP:0004808
  • 结肠腺癌 HP:0040276
  • 主动脉缩窄 HP:0001680
  • 中性粒细胞减少症 HP:0001875
  • 鼻梁塌陷 HP:0005280
  • 发育性白内障 HP:0000519
  • 发育性青光眼 HP:0001087
  • 内眦赘皮 HP:0000286
  • 眼距过宽 HP:0000316
  • 前发际低 HP:0000294
  • 低位耳 HP:0000369
  • 恶性泌尿生殖道肿瘤 HP:0006758
  • 小头畸形 HP:0000252
  • 小下颌 HP:0000347
  • 小耳畸形 HP:0008551
  • 非免疫性胎儿水肿 HP:0001790
  • 骨肉瘤 HP:0002669
  • 上睑下垂 HP:0000508
  • 斜视 HP:0000486
  • 血小板减少症 HP:0001873
  • 血小板增多症 HP:0001894
  • 宽鼻梁 HP:0000431

近两年的全球研究 383L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

  • 2026-07
    Convergent nuclear proteostasis alterations across 40S ribosomal protein deficiencies
    Nature communications · DOI · Europe PMC
  • 2026-07综述
    Mechanisms coordinating exit from the stem cell state in mammals
    Genes & development · DOI · Europe PMC
  • 2026-06综述
    From ribosomopathies to therapeutic targets: ribosomal alterations in pediatric leukemogenesis and tumorigenesis
    Frontiers in oncology · DOI · Europe PMC
  • 2026-06
    Generation and characterization of human iPSC line SANi013-A from a Diamond-Blackfan anemia syndrome (DBAS) patient carrying a heterozygous RPS26 c.95-98 duplication variant
    Stem cell research · DOI · Europe PMC
  • 2026-06
    Altered translation efficiency of specific mRNAs in a zebrafish model of Diamond-Blackfan anemia syndrome
    Biochemical and biophysical research communications · DOI · Europe PMC
  • 2026-06开放获取
    A RiboCancer cell line panel reveals that CLL-associated Rps15 mutations translationally rewire transcription through codon-specific tRNA accommodation defects
    HemaSphere · DOI · Europe PMC
  • 2026-06综述开放获取
    Understanding and Overcoming Osteosarcoma Heterogeneity
    Biomolecules
  • 2026-06开放获取
    rRNA intermediates associate with nucleolar reshaping in C. elegans
    Nucleic acids research · DOI · Europe PMC
  • 2026-06开放获取
    Publication Only
    HemaSphere
  • 2026-06开放获取
    Plenary Abstracts Session & Oral Presentations
    HemaSphere
  • 2026-06开放获取
    NOC4L coordinates neuronal and pharyngeal arch development by regulating ribosome biogenesis
    Journal of molecular cell biology · 被引 1 · DOI · Europe PMC
  • 2026-05
    Correction to "DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome"
    American journal of hematology · DOI · Europe PMC
  • 2026-05
    Revertant Mosaicism Obscures Long-Awaited Molecular Confirmation of Diamond-Blackfan Anemia
    American journal of medical genetics. Part A · DOI · Europe PMC
  • 2026-05综述开放获取
    Sarcomas in Adolescents and Young Adults
    Current oncology reports · DOI · Europe PMC
  • 2026-05开放获取
    &lt;i&gt;TP53&lt;/i&gt;-mutant AML with ribosomal gene loss exhibits impaired protein translation and sensitivity to HSP90 inhibition
    Science advances · DOI · Europe PMC
  • 2026-05综述开放获取
    Molecular and therapeutic frontiers in anemia therapy
    The Journal of clinical investigation · DOI · Europe PMC
  • 2026-05
    Diamond-Blackfan anemia gene product RPS19 counteracts SET to maintain p53 transcriptional activity and tumor suppressor function
    Cell reports · DOI · Europe PMC
  • 2026-05
    Management of Iron Overload in Infants and Toddlers With Diamond-Blackfan Anemia Syndrome: A French-Italian Study
    American journal of hematology · DOI · Europe PMC
  • 2026-05病例报告
    Germline TP53 Mutations Causing Diamond-Blackfan Anemia: A French Report
    Pediatric blood & cancer · DOI · Europe PMC
  • 2026-05开放获取
    A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders
    Italian journal of pediatrics · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

已获孤儿药资格、尚未获批的在研药物（3 项）

孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。

  • autologous CD34+ cells transfected with a lentiviral vector containing欧盟2021-08-20
    Treatment of Diamond-Blackfan anaemia
    官方记录
  • autologous CD34+ enriched cells transduced with a self-inactivating le欧盟2021-11-12
    Treatment of Diamond-Blackfan anaemia
    官方记录
  • CD34+ cells that have been transduced in vitro with a lentiviral vecto美国2020-10-21
    Treatment Diamond-Blackfan Anemia
    官方记录

数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

在中国开展的临床试验 2L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

当前没有检索到登记为可入组的试验。

其他状态的试验（2 项）
  • 已完成NCT00171821
    A Study Assessing the Efficacy and Safety of Deferasirox in Patients With Transfusion-dependent Iron Overload
    III 期 · 干预性 · 2005/04Novartis Pharmaceuticals
    中国研究中心 3 个：Guangzhou、Nanjing、Shanghai
  • 已完成NCT00600938
    Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron Overload
    II 期 · 干预性 · 2007/11Novartis Pharmaceuticals
    中国研究中心 1 个：Nanning

中国境外的在招试验 11L2

这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。

美国10法国1

共 11 项。

  • 招募中NCT07186179
    Mobilization of CD34+ Peripheral Blood Stem Cells in Patients With Diamond Blackfan Anemia Syndrome (DBAS)
    观察性 · 2026/06/01Northwell Health
    美国
  • 招募中NCT07476183
    Assessing the Safety, Tolerability, and Efficacy of APR-2020 in Pediatric and Adolescent Subjects With RPS19 Deficient Diamond-Blackfan Anemia
    I 期 · 干预性 · 2026/04/16Apriligen, Inc.
    美国
  • 招募中NCT04099966
    AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
    II 期 · 干预性 · 2021/04/01Mitchell Cairo
    美国
  • 招募中NCT04528355
    Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
    观察性 · 2020/08/20Paul Szabolcs
    美国
  • 招募中NCT03653338
    T-Cell Depleted Alternative Donor Bone Marrow Transplant for Sickle Cell Disease (SCD) and Other Anemias
    I 期、II 期 · 干预性 · 2018/08/02Paul Szabolcs
    美国
  • 招募中NCT03050268
    Familial Investigations of Childhood Cancer Predisposition
    观察性 · 2017/04/06St. Jude Children's Research Hospital
    美国
  • 招募中NCT04781790
    French National Registry of Bone Marrow Failures
    观察性 · 2017/02/06Assistance Publique - Hôpitaux de Paris
    法国
  • 招募中NCT02720679
    Investigation of the Genetics of Hematologic Diseases
    观察性 · 2016/06/17St. Jude Children's Research Hospital
    美国
  • 招募中NCT01962415
    Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
    II 期 · 干预性 · 2014/02/04Paul Szabolcs
    美国
  • 招募中NCT00106015
    Diamond Blackfan Anemia Registry (DBAR)
    观察性 · 2004/09Northwell Health
    美国
  • 招募中NCT00027274
    Cancer in Inherited Bone Marrow Failure Syndromes
    观察性 · 2001/11/28National Cancer Institute (NCI)
    美国

外部标识与链接

OrphanetOMIM:105650OMIM:300946OMIM:606129MONDO:0015253GARD:6274ICD-10 D61.0ICD-11 3A60.1ClinicalTrials.gov 检索

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）