HbBart's 胎儿水肿综合征
Hemoglobin Bart's fetalis syndrome
定义
一种罕见的重型α-地中海贫血，易致死。该病的特征是胎儿起病的全身性水肿，胸膜和心包积液以及严重的低色素性贫血。
别名
血红蛋白Bart's胎儿水肿
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、新生儿期
- 患病率
- >1 / 1000（South East Asia）
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| HBA2 | hemoglobin subunit alpha 2 | Disease-causing germline mutation(s) in |
| HBA1 | hemoglobin subunit alpha 1 | Disease-causing germline mutation(s) in |
临床表型 12
极常见 99–80%5
- 血红蛋白异常 HP:0011902
- 贫血 HP:0001903
- 充血性心力衰竭 HP:0001635
- 胎儿水肿 HP:0001789
- 苍白圈 HP:0000980
常见 79–30%6
- 肝脏肿大 HP:0002240
- 脑积水 HP:0000238
- 羊水过少 HP:0001562
- 羊水过多 HP:0001561
- 先兆子痫 HP:0100602
- 脾肿大 HP:0001744
偶见 29–5%1
- 心包炎 HP:0001701
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。
- 2026-07Transfusion-dependent changes to hemoglobin A<sub>1c</sub> in a beta-thalassemia major patient
- 2026-06Assessment of hepatic fibrosis in Egyptian children and adolescents with beta thalassemia major: a single center study
- 2026-06开放获取Diagnostic performance of discriminant formulas and machine learning models for detecting β-thalassemia trait in Bangladesh
- 2026-06Protection of Islet Beta Cells from Iron Overload-Induced Injury by Long Non-Coding RNA Maternally Expressed Gene 3
- 2026-06Sub-voxel Susceptibility Mapping and Machine Learning to Detect Brain Iron Deposition and Its Cognitive Relevance in Beta-Thalassemia
- 2026-06开放获取Evaluation of heart rate variability in pediatric patients with beta thalassemia major: Cross-sectional study
- 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)
- 2026-06Abstract
- 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
- 2026-06开放获取Publication Only
- 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
- 2026-05开放获取Spectrum of Hemoglobinopathies in Microcytic Hypochromic Anemia: A Cross-Sectional Study From Western India
- 2026-05开放获取Surface-based brain age index reflects hematological impacts on cognitive development in children with beta-thalassemia major
- 2026-05开放获取Diagnostic Utility of High-Performance Liquid Chromatography and Its Correlation With Hematological Indices in the Evaluation of Hemoglobinopathies
- 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
- 2026-05病例报告开放获取Use of romosozumab for osteoporosis in β-thalassemia major
- 2026-05Brain microstructural alterations on quantitative synthetic MRI and correlation with cognitive dysfunction in patients with β-thalassemia major
- 2026-05综述开放获取Liver Fibrosis: Molecular Pathogenesis and Therapeutic Interventions
- 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
- 2026-05Bone density unveiled: Investigating the effects of beta-thalassemia major on growing children and adolescents
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。
匹配不到 ≠ 不能报销。目录里只有约一成药品设了限定支付范围，其余按适应症正常使用同样可报销；本区块只能回答「目录有没有点名这个病」，不能回答「这个病有没有药能报销」。各省执行细则、双通道与单独支付范围另有规定，请以当地医保部门口径为准。
- 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。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Ferriprox欧盟1999-08-25deferiprone官方记录
- Exjade欧盟2006-08-28deferasirox官方记录
- Zynteglo美国2022-08-17betibeglogene autotemcel官方记录
已获孤儿药资格、尚未获批的在研药物（2 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。
- deferoxamine starch conjugate美国1998-12-21Treatment of chronic iron overload resulting from conventional transfusional treatment of beta-thalassemia major and sickle cell anemia.官方记录
- Lentiviral vector encoded with a human beta-globin gene plasmid美国2006-01-11Treatment of beta-thalassemia major and beta-thalassemia intermedia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NCT04064060A Study to Evaluate Long-term Safety in Participants Who Have Participated in Other Luspatercept (ACE-536) Clinical Trials中国研究中心 6 个：Beijing、Chengdu、Guangzhou、Hangzhou、Shanghai、Tianjin
- 招募中NCT04143724Study of Safety & PK of Luspatercept (ACE-536) in Pediatric Participants With Beta (β)-Thalassemia中国研究中心 6 个：Chengdu、Guangzhou、Nanning、Shenzhen
- 招募中NCT05745532Safety and Efficacy Evaluation of β-globin Restored Autologous Hematopoietic Stem Cells in β-thalassemia Major Patients中国研究中心 1 个：Shenzhen
- 招募中NCT06314529Long-term Follow-up Study of BHC001 for TDT中国研究中心 2 个：Changsha、Nanning
- 招募中NCT05762510A Study Evaluating the Safety and Efficacy of LentiRed Drug Product in Transfusion-dependent β-Thalassemia [TDT]中国研究中心 1 个：Nanning
- 招募中NCT05991336Growth and Development-related Outcomes in Children With Transfusion-dependent Beta-thalassemia After Gene Therapy中国研究中心 1 个：Tianjin
- 招募中NCT05776173Safety and Efficacy of Gene Modified Autologous Hematopoietic Stem Cells to Treat Transfusion-dependent β-thalassemia中国研究中心 1 个：Shanghai
- 招募中NCT05773729Safety and Efficacy of Gene Modified Autologous Hematopoietic Stem Cells to Treat Transfusion-dependent Beta-thalassemia中国研究中心 1 个：Shanghai
- 招募中NCT06219239Safety and Efficacy of the Lentiviral Vector in Gene Therapy of Beta-thalassemia Patients中国研究中心 1 个：Tianjin
- 招募中NCT06465550A Phase 1 Study of Gene-modified Autologous Hematopoietic Stem Cell (BD211) Treating β-thalassemia Major中国研究中心 3 个：Guangzhou、Nanning、Shanghai
- 仅邀请入组NCT06328764CS-101 in Patients With β-thalassemia中国研究中心 1 个：Nanning
- 招募中NCT06280378Β-Thalassemia Treatment with KL003 Cell Injection中国研究中心 2 个：Shanghai、Tianjin
- 招募中NCT06479616A Long-term Follow-up Study in Participants Who Received CS-101中国研究中心 1 个：Shanghai
- 招募中NCT06734520Clinical Study of Super Transplantation in the Treatment of Severe β-thalassemia中国研究中心 1 个：Guangzhou
- 招募中NCT06298630Long-term Follow-up Study of BRL-101 for TDT中国研究中心 7 个：Changsha、Guangxi、Guangzhou、Nanning、Shenzhen、Tianjin
- 招募中NCT06772766A Multiple Ascending Dose Study of 9MW3011 in Patients With Non-transfusion-dependent β-thalassemia中国研究中心 2 个：Haikou、Nanning
- 尚未开始招募NCT06678165A Pilot Study on the Safety and Efficacy of YOLT-204 for Transfusion-Dependent Beta-Thalassemia中国研究中心 1 个：Nanning
- 仅邀请入组NCT06685536A Long-term Follow-up Study in Participants Who Received CS-101中国研究中心 1 个：Nanning
- 仅邀请入组NCT06717932A Follow-up Study to Evaluate the Long-term Safety and Efficacy in Participants Who Received CS-101 Injection中国研究中心 1 个：Nanning
- 尚未开始招募NCT07489196A Phase 2 Safety and Efficacy Study Evaluating CS-101 in Participants With β-Thalassemia Major中国研究中心 3 个：Nanning、Shanghai
宽泛匹配的在招试验（1 项）
这些试验只被更宽泛的病名命中（例如用「帕金森病」检索「青年型帕金森病」），很可能并不针对本病。逐条看标题再判断。
- A Clinical Study of Ultra-transplantation for the Treatment of Major Thalassemia Scheme中国研究中心 1 个：Kunming
其他状态的试验（30 项）
- 状态未知NCT02126046Unrelated Umbilical Cord Blood Following HLA-haploidentical Hematopoietic Stem Cell Transplantation in Patients With β-thalassemia Major中国研究中心 1 个：Guangzhou
- 已完成NCT02342145Efficacy of Basiliximab in the Prevention of Acute Graft-versus-host Disease in Unrelated Allogeneic Hematopoietic Stem Cell Transplantation Therapy for Thalassemia Major中国研究中心 3 个：Haikou、Liuzhou、Nanning
- 状态未知NCT03101423Monitoring of Chimerism After Transplantation in Patients With β Thalassemia Major and the Treatment Strategies for the Reduction of Chimerism中国研究中心 1 个：Nanning
- 状态未知NCT04918056Genetic Variants Affecting the Clinical Severity of Beta Thalassemia中国研究中心 1 个：Guangzhou
- 状态未知NCT03171831Haploidentical Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major中国研究中心 1 个：Nanning
- 状态未知NCT03276455Gene Therapy for Beta-Thalassemia Major Using Autologous Hematopoietic Stem Cell Genetically Modified中国研究中心 1 个：Guangzhou
- 状态未知NCT03351829Gene Therapy of Beta Thalassemia Using a Self-inactivating Lentiviral Vector中国研究中心 1 个：Shenzhen
- 状态未知NCT03392298Study on the Mechanism of Colla Corri Asini in the Treatment of Thalassemia Patients With Pregnancy Anemia中国研究中心 1 个：Guangzhou
- 已完成NCT04009525Hematopoietic Stem Cell Transplantation for Patients With Thalassemia Major: A Multicenter, Prospective Clinical Study中国研究中心 1 个：Nanning
- 状态未知NCT04917978Association of Hb F Level With Clinical Severity of Beta Thalassemia中国研究中心 1 个：Guangzhou
- 已完成NCT04211480Safety and Efficacy Evaluation of γ-globin Reactivated Autologous Hematopoietic Stem Cells中国研究中心 1 个：Shanghai
- 状态未知NCT04929574Evaluation of Heart Status in Patients of Beta Thalassemia Using Echocardiogram中国研究中心 1 个：Guangzhou
- 已完成NCT05015920A Study Evaluating the Safety and Efficacy of the BD211 Drug Product in β-Thalassemia Major Participants中国研究中心 1 个：Kunming
- 已终止NCT04925206A Safety and Efficacy Study Evaluating ET-01 in Subjects with Transfusion Dependent Β-Thalassaemia中国研究中心 4 个：Guangzhou、Shenzhen、Tianjin
- 已终止NCT04205435β-globin Restored Autologous HSC in β-thalassemia Major Patients中国研究中心 1 个：Shanghai
- 状态未知NCT05462548The Safety and Efficiency of Luspatercept in Chinese Adults With Transfusion Dependent β-thalassemia: a Real-world Study中国研究中心 1 个：Guangzhou
- 进行中·不再招募NCT05567458A Study to Evaluate Luspatercept (ACE-536) in Chinese Participants Who Require Regular Red Blood Cell Transfusions Due to Beta (β)-Thalassemia.中国研究中心 10 个：Guangzhou、Haikou、Kunming、Liuzhou、Maoming、Nanning 等 7 地
- 进行中·不再招募NCT05577312Safety and Efficacy Evaluation of BRL-101 in Subjects With Transfusion-Dependent β-Thalassemia中国研究中心 7 个：Changsha、Guangzhou、Guanzhou、Nanning、Shenzhen、Tianjin
- 已完成NCT04390971Safety and Efficacy Evaluation of ET-01 Transplantation in Subjects With Transfusion Dependent β-Thalassaemia中国研究中心 3 个：Guiyang、Tianjin、Zunyi
- 已终止NCT05752123A Study to Evaluate the Safety and Efficacy of ET-01 Transplantation in Subjects with Transfusion Dependent Β-Thalassaemia.中国研究中心 1 个：Nanning
- 状态未知NCT05788562The Relevance Between the Level of Fetal Hemoglobin and Short-term Complications in Extremely Preterm Infants中国研究中心 1 个：Changchun
- 进行中·不再招募NCT05860595Evaluation the Safety and Efficacy of KL003 Cell Injection in the Treatment of Transfusion-dependent β-thalassemia.中国研究中心 1 个：Tianjin
- 已完成NCT06024876A Clinical Study Evaluating the Safety and Efficacy of CS-101 in Treating Subjects With β-thalassemia中国研究中心 1 个：Nanning
- 状态未知NCT06041620Safety and Efficacy Evaluation of Autologous CRISPR-Cas12b Edited Hematopoietic Stem Cells中国研究中心 1 个：Tianjin
- 状态未知NCT06026839Longitudinal Study on the QoL of Pediatric Patients After HSCT and Its Influencing Factors中国研究中心 1 个：Guangzhou
- 已完成NCT06065189Base-edited Autologous Hematopoietic Stem Cell Transplantation in Treating Patients With β-thalassemia Major中国研究中心 1 个：Shanghai
- 已暂停NCT05442346Safety and Efficacy Evaluation of γ-globin Reactivated Autologous Hematopoietic Stem Cells中国研究中心 1 个：Shanghai
- 已完成NCT06291961A Safety and Efficacy Study Evaluating CS-101 in Subjects With β-Thalassemia Major中国研究中心 3 个：Nanning、Shanghai
- 进行中·不再招募NCT06308159An Open-label Study of a Gene Therapy Product (Vebeglogene Autotemcel) in Transfusion Dependent Beta-Thalassemia中国研究中心 2 个：Kunming
- 进行中·不再招募NCT06931912Growth Evaluation, Health Promotion, and Clinical Management in Children and Adolescents With Thalassemia中国研究中心 1 个：Tianjin
中国境外的在招试验 63L2
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21意大利4西班牙3巴基斯坦3埃及3沙特阿拉伯2奥地利2丹麦2Oman1法国1土耳其1韩国1Angola1阿根廷1另有 11 个国家/地区
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NCT07502781Heterologous Cord Blood-Derived Red Blood Cell for Transfusion in Extremely Preterm Infants西班牙
- 尚未开始招募NCT07614217Oral Health Status in Children With β-Thalassemia Major
- 尚未开始招募NCT07660224The Effect of Motivational Interviewing on Treatment Adherence and Self-Efficacy Among Omani Adults With Thalassemia
- 招募中NCT07517133A Study to Investigate the Efficacy, Pharmacokinetics, and Safety of Mitapivat in Pediatric Participants With α- or β-Non-Transfusion-Dependent Thalassemia美国
- 尚未开始招募NCT07721480Gene Therapy for Patients With Transfusion-Dependent β-Thalassemia
- 招募中NCT07506863A Study to Investigate the Efficacy, Pharmacokinetics, and Safety of Mitapivat in Pediatric Participants With Transfusion-Dependent Alpha- or Beta-Thalassemia (α- or β-TDT)美国
- 招募中NCT07599176Partial Stem Cell Transplant for Sickle Cell Disease From Matched Donors美国
- 招募中NCT07680803Gene-Modified Stem Cell Therapy for Subjects With Transfusion-dependent Beta-thalassemia意大利
- 尚未开始招募NCT07480980Evaluation of Micro RNA-155 Expression in Relation to Alloantibody Formation in Transfusion-Dependent Patients
- 招募中NCT07215975A Real-World Study to Evaluate Luspatercept in Adults With Transfusion-Dependent Beta-Thalassemia in the Middle EastOman、沙特阿拉伯
- 招募中NCT07673302Safety and Efficacy of Hemoglobin F Inducers in Patients With Beta Thalassemia巴基斯坦
- 尚未开始招募NCT07509996Risk Factors Affecting Growth in Thalassemic Children at AUCH
- 招募中NCT07672275Transfusion-Related Changes in Oxidative Stress Biomarkers in Neonates奥地利
- 尚未开始招募NCT07288762Gonadal Function in Thalassemic Patient
- 招募中NCT06647979Hematopoietic Stem Cell BCL11A Enhancer Gene Editing for Severe β-Hemoglobinopathies美国
外部标识与链接
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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）