β-地中海贫血重型

定义

重型β地中海贫血（BT）是一种严重的早发性BT（见该词条），其特征是严重贫血，需要定期输注红细胞。

别名

地中海贫血

基本事实

遗传方式

常染色体隐性

发病年龄

婴儿期、新生儿期

患病率

1-9 / 1 000 000（United States）

相关基因 1

临床表型 50

近两年的全球研究 297L2

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
  Transfusion-dependent changes to hemoglobin A<sub>1c</sub> in a beta-thalassemia major patient
  Clinical chemistry and laboratory medicine · DOI · Europe PMC
• 2026-06
  Assessment of hepatic fibrosis in Egyptian children and adolescents with beta thalassemia major: a single center study
  European journal of pediatrics · DOI · Europe PMC
• 2026-06开放获取
  Diagnostic performance of discriminant formulas and machine learning models for detecting β-thalassemia trait in Bangladesh
  PloS one · DOI · Europe PMC
• 2026-06
  Protection of Islet Beta Cells from Iron Overload-Induced Injury by Long Non-Coding RNA Maternally Expressed Gene 3
  Journal of visualized experiments : JoVE · DOI · Europe PMC
• 2026-06
  Sub-voxel Susceptibility Mapping and Machine Learning to Detect Brain Iron Deposition and Its Cognitive Relevance in Beta-Thalassemia
  AJNR. American journal of neuroradiology · DOI · Europe PMC
• 2026-06开放获取
  Evaluation of heart rate variability in pediatric patients with beta thalassemia major: Cross-sectional study
  World journal of clinical pediatrics · DOI · Europe PMC
• 2026-06综述开放获取
  Molecular mechanisms of iron metabolism and ferroptosis in cardiovascular diseases and intervention strategies targeting natural products (Review)
  Molecular medicine reports · DOI · Europe PMC
• 2026-06
  Abstract
  JPGN reports
• 2026-06系统综述综述开放获取
  Hypervirulent Klebsiella pneumoniae Infections: A Systematic Review of Clinical, Microbiological, and Outcome Data From Reported Cases
  MicrobiologyOpen · DOI · Europe PMC
• 2026-06开放获取
  Publication Only
  HemaSphere
• 2026-05开放获取
  Survival disparities and competing mortality risks in offspring of consanguineous marriages in Yemen: A 26-year retrospective cohort analysis
  PloS one · DOI · Europe PMC
• 2026-05开放获取
  Spectrum of Hemoglobinopathies in Microcytic Hypochromic Anemia: A Cross-Sectional Study From Western India
  Cureus · DOI · Europe PMC
• 2026-05开放获取
  Surface-based brain age index reflects hematological impacts on cognitive development in children with beta-thalassemia major
  iScience · DOI · Europe PMC
• 2026-05开放获取
  Diagnostic Utility of High-Performance Liquid Chromatography and Its Correlation With Hematological Indices in the Evaluation of Hemoglobinopathies
  Cureus · DOI · Europe PMC
• 2026-05病例报告开放获取
  Price of a Dog Bite: Multiorgan Failure Secondary to Capnocytophaga canimorsus Infection Requiring Veno-Venous Extracorporeal Membrane Oxygenation (VV-ECMO) Support
  Cureus · DOI · Europe PMC
• 2026-05病例报告开放获取
  Use of romosozumab for osteoporosis in β-thalassemia major
  JBMR plus · DOI · Europe PMC
• 2026-05
  Brain microstructural alterations on quantitative synthetic MRI and correlation with cognitive dysfunction in patients with β-thalassemia major
  Brain research bulletin · DOI · Europe PMC
• 2026-05综述开放获取
  Liver Fibrosis: Molecular Pathogenesis and Therapeutic Interventions
  MedComm · DOI · Europe PMC
• 2026-05开放获取
  Socio-demographic and therapeutic profile of people living with thalassemia in Brazil between 2012 and 2022: A cross-sectional study
  Hematology, transfusion and cell therapy · DOI · Europe PMC
• 2026-05
  Bone density unveiled: Investigating the effects of beta-thalassemia major on growing children and adolescents
  JPMA. The Journal of the Pakistan Medical Association · DOI · Europe PMC

国家医保药品目录中点名本病的药品 3L2

出自《国家基本医疗保险、生育保险和工伤保险药品目录（2025年）》（医保发〔2025〕33号，2026-01-01 起执行）。下列药品在药品名称或限定支付范围里出现了本病的名称。

• 去铁酮片乙类谈判药品
  限地中海贫血。
• 地拉罗司颗粒乙类谈判药品
  限：1.年龄大于2岁的β-地中海贫血患者；2.10岁及10岁以上非输血依赖性地中海贫血综合征患者。
• 注射用罗特西普乙类谈判药品
  限：1.极低危、低危和中危骨髓增生异常综合征引起的贫血且需要定期输注红细胞的成人患者；2.β-地中海贫血成人患者。

境外已获批用于本病的药物 3L2

欧盟 2 项、美国 1 项。同一药物在两地各批一次的，会分别列出。

• Ferriprox欧盟1999-08-25
  deferiprone
  官方记录
• Exjade欧盟2006-08-28
  deferasirox
  官方记录
• Zynteglo美国2022-08-17
  betibeglogene autotemcel
  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 51L2

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。

登记为可入组 20

• 招募中NCT04064060
  A Study to Evaluate Long-term Safety in Participants Who Have Participated in Other Luspatercept (ACE-536) Clinical Trials
  III 期 · 干预性 · 2019/08/12Celgene
  中国研究中心 6 个：Beijing、Chengdu、Guangzhou、Hangzhou、Shanghai、Tianjin
• 招募中NCT04143724
  Study of Safety & PK of Luspatercept (ACE-536) in Pediatric Participants With Beta (β)-Thalassemia
  II 期 · 干预性 · 2019/11/07Celgene
  中国研究中心 6 个：Chengdu、Guangzhou、Nanning、Shenzhen
• 招募中NCT05745532
  Safety and Efficacy Evaluation of β-globin Restored Autologous Hematopoietic Stem Cells in β-thalassemia Major Patients
  早期 I 期 · 干预性 · 2020/12/01Shenzhen Hemogen
  中国研究中心 1 个：Shenzhen
• 招募中NCT06314529
  Long-term Follow-up Study of BHC001 for TDT
  观察性 · 2022/12/14Bioray Laboratories
  中国研究中心 2 个：Changsha、Nanning
• 招募中NCT05762510
  A Study Evaluating the Safety and Efficacy of LentiRed Drug Product in Transfusion-dependent β-Thalassemia [TDT]
  早期 I 期 · 干预性 · 2023/02/22First Affiliated Hospital of Guangxi Medical University
  中国研究中心 1 个：Nanning
• 招募中NCT05991336
  Growth and Development-related Outcomes in Children With Transfusion-dependent Beta-thalassemia After Gene Therapy
  观察性 · 2023/06/05Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin
• 招募中NCT05776173
  Safety and Efficacy of Gene Modified Autologous Hematopoietic Stem Cells to Treat Transfusion-dependent β-thalassemia
  不适用 · 干预性 · 2023/08/10Shanghai BDgene Co., Ltd.
  中国研究中心 1 个：Shanghai
• 招募中NCT05773729
  Safety and Efficacy of Gene Modified Autologous Hematopoietic Stem Cells to Treat Transfusion-dependent Beta-thalassemia
  不适用 · 干预性 · 2023/09/15Shanghai BDgene Co., Ltd.
  中国研究中心 1 个：Shanghai
• 招募中NCT06219239
  Safety and Efficacy of the Lentiviral Vector in Gene Therapy of Beta-thalassemia Patients
  不适用 · 干预性 · 2024/01/04Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin
• 招募中NCT06465550
  A Phase 1 Study of Gene-modified Autologous Hematopoietic Stem Cell (BD211) Treating β-thalassemia Major
  I 期 · 干预性 · 2024/01/05Shanghai BDgene Co., Ltd.
  中国研究中心 3 个：Guangzhou、Nanning、Shanghai
• 仅邀请入组NCT06328764
  CS-101 in Patients With β-thalassemia
  早期 I 期 · 干预性 · 2024/03/19CorrectSequence Therapeutics Co., Ltd
  中国研究中心 1 个：Nanning
• 招募中NCT06280378
  Β-Thalassemia Treatment with KL003 Cell Injection
  I 期、II 期 · 干预性 · 2024/04/05Kanglin Biotechnology (Hangzhou) Co., Ltd.
  中国研究中心 2 个：Shanghai、Tianjin
• 招募中NCT06479616
  A Long-term Follow-up Study in Participants Who Received CS-101
  不适用 · 干预性 · 2024/06/18Children's Hospital of Fudan University
  中国研究中心 1 个：Shanghai
• 招募中NCT06734520
  Clinical Study of Super Transplantation in the Treatment of Severe β-thalassemia
  不适用 · 干预性 · 2024/10/01Guangzhou Women and Children's Medical Center
  中国研究中心 1 个：Guangzhou
• 招募中NCT06298630
  Long-term Follow-up Study of BRL-101 for TDT
  观察性 · 2024/12/08Bioray Laboratories
  中国研究中心 7 个：Changsha、Guangxi、Guangzhou、Nanning、Shenzhen、Tianjin
• 招募中NCT06772766
  A Multiple Ascending Dose Study of 9MW3011 in Patients With Non-transfusion-dependent β-thalassemia
  I 期 · 干预性 · 2024/12/30Mabwell (Shanghai) Bioscience Co., Ltd.
  中国研究中心 2 个：Haikou、Nanning
• 尚未开始招募NCT06678165
  A Pilot Study on the Safety and Efficacy of YOLT-204 for Transfusion-Dependent Beta-Thalassemia
  早期 I 期 · 干预性 · 2024/12/31First Affiliated Hospital of Guangxi Medical University
  中国研究中心 1 个：Nanning
• 仅邀请入组NCT06685536
  A Long-term Follow-up Study in Participants Who Received CS-101
  观察性 · 2025/01/18CorrectSequence Therapeutics Co., Ltd
  中国研究中心 1 个：Nanning
• 仅邀请入组NCT06717932
  A Follow-up Study to Evaluate the Long-term Safety and Efficacy in Participants Who Received CS-101 Injection
  观察性 · 2025/05/15CorrectSequence Therapeutics Co., Ltd
  中国研究中心 1 个：Nanning
• 尚未开始招募NCT07489196
  A Phase 2 Safety and Efficacy Study Evaluating CS-101 in Participants With β-Thalassemia Major
  II 期 · 干预性 · 2026/04/05CorrectSequence Therapeutics Co., Ltd
  中国研究中心 3 个：Nanning、Shanghai

中国境外的在招试验 63L2

CT.gov 报告命中 63 项，此处取回并展示最近的 15 项。

• 尚未开始招募NCT07502781
  Heterologous Cord Blood-Derived Red Blood Cell for Transfusion in Extremely Preterm Infants
  不适用 · 干预性 · 2027/01Hospital Clinic of Barcelona
  西班牙
• 尚未开始招募NCT07614217
  Oral Health Status in Children With β-Thalassemia Major
  不适用 · 干预性 · 2026/11/01Cairo University
• 尚未开始招募NCT07660224
  The Effect of Motivational Interviewing on Treatment Adherence and Self-Efficacy Among Omani Adults With Thalassemia
  不适用 · 干预性 · 2026/11/01Oman Ministry of Health
• 招募中NCT07517133
  A Study to Investigate the Efficacy, Pharmacokinetics, and Safety of Mitapivat in Pediatric Participants With α- or β-Non-Transfusion-Dependent Thalassemia
  III 期 · 干预性 · 2026/09Agios Pharmaceuticals, Inc.
  美国
• 尚未开始招募NCT07721480
  Gene Therapy for Patients With Transfusion-Dependent β-Thalassemia
  II 期 · 干预性 · 2026/09Prince of Wales Hospital, Shatin, Hong Kong
• 招募中NCT07506863
  A Study to Investigate the Efficacy, Pharmacokinetics, and Safety of Mitapivat in Pediatric Participants With Transfusion-Dependent Alpha- or Beta-Thalassemia (α- or β-TDT)
  III 期 · 干预性 · 2026/09Agios Pharmaceuticals, Inc.
  美国
• 招募中NCT07599176
  Partial Stem Cell Transplant for Sickle Cell Disease From Matched Donors
  I 期、II 期 · 干预性 · 2026/07/08National Heart, Lung, and Blood Institute (NHLBI)
  美国
• 招募中NCT07680803
  Gene-Modified Stem Cell Therapy for Subjects With Transfusion-dependent Beta-thalassemia
  II 期 · 干预性 · 2026/07/06Fondazione Telethon
  意大利
• 尚未开始招募NCT07480980
  Evaluation of Micro RNA-155 Expression in Relation to Alloantibody Formation in Transfusion-Dependent Patients
  观察性 · 2026/07/01Assiut University
• 招募中NCT07215975
  A Real-World Study to Evaluate Luspatercept in Adults With Transfusion-Dependent Beta-Thalassemia in the Middle East
  观察性 · 2026/06/25Bristol-Myers Squibb
  Oman、沙特阿拉伯
• 招募中NCT07673302
  Safety and Efficacy of Hemoglobin F Inducers in Patients With Beta Thalassemia
  不适用 · 干预性 · 2026/06/20Riphah International University
  巴基斯坦
• 尚未开始招募NCT07509996
  Risk Factors Affecting Growth in Thalassemic Children at AUCH
  观察性 · 2026/04/01Assiut University
• 招募中NCT07672275
  Transfusion-Related Changes in Oxidative Stress Biomarkers in Neonates
  观察性 · 2025/12/12Medical University of Graz
  奥地利
• 尚未开始招募NCT07288762
  Gonadal Function in Thalassemic Patient
  观察性 · 2025/12/07Sohag University
• 招募中NCT06647979
  Hematopoietic Stem Cell BCL11A Enhancer Gene Editing for Severe β-Hemoglobinopathies
  I 期 · 干预性 · 2025/12/01Daniel Bauer
  美国

外部标识与链接