Beta-thalassemia

Last reviewed

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ORPHA:848OMIM:613985D56.1
Who is this for?
Show terms as
3FDA treatments44Active trials76Specialists8Treatment centers2Financial resources

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Beta Thalassemia is treated with 3 medications in our database, including AQVESME, AURLUMYN, Reblozyl. 1 of these has manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Agios, Eicos, Bristol Myers Squibb. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Beta Thalassemia treatment below.

Clinical phenotype terms— hover any for plain English:

Microcytic anemiaHP:0001935Abnormal hemoglobinHP:0011902Abnormality of temperature regulationHP:0004370Abnormality of iron homeostasisHP:0011031
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

10 events
Jan 2027Heterologous Cord Blood-Derived Red Blood Cell for Transfusion in Extremely Preterm Infants

Hospital Clinic of Barcelona — NA

TrialNOT YET RECRUITING
Jul 2026Association of Micro RNA-155 With Alloimmunization in Transfusion-Dependent Patients

Assiut University

TrialNOT YET RECRUITING
Feb 2026A Real-World Study to Evaluate Luspatercept in Adults With Transfusion-Dependent Beta-Thalassemia in the Middle East

Bristol-Myers Squibb

TrialRECRUITING
Dec 2025

AQVESME: FDA approved

treatment of anemia in adults with alpha- or beta-thalassemia

FDAcompleted
Dec 2025Gonadal Function in Thalassemic Patient

Sohag University

TrialNOT YET RECRUITING
Nov 2025Use of the Hemanext One® Hypoxic Red Blood Cell Storage System for Transfusion in Thalassemia Patients

University Research Institute for the Study of Genetic & Malignant Disorders in Childhood

TrialENROLLING BY INVITATION
Oct 2025Body Composition in Pediatric Patients With Thalassemia Major

Assiut University

TrialNOT YET RECRUITING
Sep 2025Evaluation of Physiological and Psychological Factors Involved in Exercise Intolerance in Patients With β-TTD

Centre Hospitalier Metropole Savoie — NA

TrialRECRUITING
Aug 2025Evaluating the Effect of N-Acetyl Cysteine and Alpha Lipoic Acid in Patients With Beta Thalassemia

Tanta University — PHASE3

TrialNOT YET RECRUITING
Aug 2025A Clinical Study of Ultra-transplantation for the Treatment of Major Thalassemia Scheme

Hu Peng — NA

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

3 available

Reblozyl

LUSPATERCEPT· Celgene Corporation

REBLOZYL is indicated for the treatment of anemia in adult patients with beta thalassemia who require regular red blood cell (RBC) transfusions

AQVESME

MITAPIVAT· Agios Pharmaceuticals, Inc.■ Boxed WarningOrphan Drug

treatment of anemia in adults with alpha- or beta-thalassemia

AURLUMYN

ILOPROST· Eicos

Detailed copay and financial assistance information is not publicly available for this medication at this time. Please consult your pharmacist or the manufacturer's official patient support program fo

Clinical Trials

20 recruitingView all trials with filters →
Phase 32 trials
Evaluation of Safety and Efficacy of CTX001 in Pediatric Participants With Transfusion-Dependent β-Thalassemia (TDT)
Phase 3
Active
· Sites: Nashville, Tennessee; Toronto +4 more · Age: 211 yrs
Evaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease
Phase 3
Actively Recruiting
· Sites: New York, New York; Charlotte, North Carolina +4 more · Age: 1235 yrs
Phase 42 trials
A Study to Evaluate the Safety and Effectiveness of Luspatercept for the Treatment of Transfusion-dependent (TD) Anemia Associated With Myelodysplastic Syndromes (MDS) & Beta-thalassemia (β-Thal) in India
Phase 4
Active
PI: Bristol-Myers Squibb (Bristol-Myers Squibb) · Sites: Ahmedabad, Gujarat; New Delhi, National Capital Territory of Delhi +7 more · Age: 1899 yrs
Effects of Hydroxyurea and Metformin in Transfusion Dependent Beta-Thalassemia
Phase 4
Actively Recruiting
PI: Ayesha Khan, MBBS MPhil (Bahria University Islamabad) · Sites: Karachi, Sindh · Age: 1025 yrs
Phase 25 trials
Long Term Beta Thalassemia Treatment: Findings From The Extension Period
Phase 2
Active
· Sites: Karachi, Sindh · Age: 835 yrs
A Trial Testing SP-420 in Subjects With Transfusion-dependent β-thalassemia or Low-risk Myelodysplastic Syndromes
Phase 2
Actively Recruiting
PI: Pharmacosmos Clinical and non-clinical Department (Pharmacosmos A/S) · Sites: Copenhagen · Age: 1899 yrs
Unraveling the Impact of Thalidomide at Diverse Doses in Transfusion Dependent Beta Thalassemia
Phase 2
Actively Recruiting
· Sites: Karachi, Sindh · Age: 835 yrs
Combination of Thalidomide and Hydroxyuria in Transfusion Dependent Thalasemmia
Phase 2
Actively Recruiting
PI: Tariq Ghafoor, FCPS,FRCP (National Institute of Blood and Marrow Transplant ) · Sites: Islamabad, Punjab Province; Rawalpindi, Punjab Province +7 more · Age: 212 yrs
A Study to Evaluate Luspatercept (ACE-536) in Chinese Participants Who Require Regular Red Blood Cell Transfusions Due to Beta (β)-Thalassemia.
Phase 2
Active
PI: Bristol-Myers Squibb (Bristol-Myers Squibb) · Sites: Maoming, Guangdong; Shenzhen, Guangdong +8 more · Age: 1899 yrs
Other11 trials
A Long-term Follow-up Study in Participants Who Received CS-101
Enrolling by Invitation
PI: Yongrong Lai, M.D. (First Affiliated Hospital of Guangxi Medical Unive) · Sites: Nanning, Guangxi · Age: 635 yrs
A Real-World Study to Evaluate Luspatercept in Adults With Transfusion-Dependent Beta-Thalassemia in the Middle East
Actively Recruiting
PI: Bristol Myers Squibb (Bristol-Myers Squibb) · Sites: Seeb, Muḩāfaz̧at Masqaţ; Jizan · Age: 1899 yrs
Use of the Hemanext One® Hypoxic Red Blood Cell Storage System for Transfusion in Thalassemia Patients
Enrolling by Invitation
PI: Antonis Kattamis, Professor (National and Kapodistrian University of Athens) · Sites: Athens, Attica · Age: 1899 yrs
A Post-Marketing Surveillance Study to Assess Safety of Luspatercept in Korean Patients With Myelodysplastic Syndrome or β-thalassemia
Actively Recruiting
PI: Bristol-Myers Squibb (Bristol-Myers Squibb) · Sites: Seoul; Seoul · Age: 1999 yrs
Growth and Development-related Outcomes in Children With Transfusion-dependent Beta-thalassemia After Gene Therapy
Actively Recruiting
· Sites: Tianjin, Tianjin Municipality · Age: 314 yrs
Long-term Follow-up of Subjects With Transfusion-Dependent β-Thalassemia (TDT) Treated With Ex Vivo Gene Therapy
Active
PI: Himal L Thakar, MD (bluebird bio, Inc.) · Sites: Oakland, California; Chicago, Illinois +13 more · Age: 050 yrs
A Study of Participants with Β-Thalassemia Treated with Betibeglogene Autotemcel
Actively Recruiting
PI: Himal Lal Thakar, MD (bluebird bio, Inc.) · Sites: Oakland, California; Palo Alto, California +4 more
Long - Term Follow Up of Sickle Cell Disease and Beta-thalassemia Subjects Previously Exposed to BIVV003 or ST-400.
Active
PI: Medical Monitor (Sangamo Therapeutics) · Sites: Oakland, California; Sacramento, California +5 more · Age: 1845 yrs
Atrial Fibrillation in Beta-Thalassemia
Actively Recruiting
· Sites: Ferrara · Age: 1899 yrs
A Follow-up Study to Evaluate the Long-term Safety and Efficacy in Participants Who Received CS-101 Injection
Enrolling by Invitation
· Sites: Nanning · Age: 1235 yrs
Investigating the Mechanistic Effects of Mitapivat in Subjects With Sickle Cell Disease
Active
PI: Swee Lay Thein, M.D. (National Heart, Lung, and Blood Institute (NHLBI)) · Sites: Bethesda, Maryland · Age: 1680 yrs

Specialists

Showing 25 of 76View all specialists →
JP
Jun Shi, PhD
Tianjin, Tianjin Municipality
Specialist

Rare Disease Specialist

PI on 6 active trials
FM
Farid Boulad, MD
NEW YORK, NY
Specialist
PI on 7 active trials
YL
YALIANG LI
Specialist
PI on 2 active trials1783 Beta-thalassemia publications
JM
John F Tisdale, M.D.
Specialist
PI on 8 active trials
HM
Himal Lal Thakar, MD
WATERBURY, CT
Specialist
PI on 3 active trials
BB
Barbara B Biesecker
CLARKS SUMMIT, PA
Specialist
PI on 16 active trials
SP
Shyang-Rong Shih, MD, PhD
Specialist
PI on 2 active trials
AM
Ariel Koren, MD
Specialist
PI on 10 active trials1 Beta-thalassemia publication
JM
John Porter, MD
Specialist
PI on 2 active trials
CM
Courtney F Joseph, M.D.
Bethesda, Maryland
Specialist

Rare Disease Specialist

PI on 3 active trials
OA
Ola Afifi
Specialist
PI on 1 active trial
RL
Reem Abd Elkhalek Mohamed, lecturer
Specialist
PI on 1 active trial
MM
Manal H El-Sayed, M.D
Specialist
PI on 1 active trial
NO
Nancy Olivieri
Specialist
PI on 1 active trial
LM
Laurent MESSONNIER
Specialist
PI on 1 active trial
JK
Janet Kwiatkowski
MEQUON, WI
Specialist
PI on 3 active trials
AS
Alexandra Stamperna
Specialist
PI on 1 active trial
TJ
Tami John
Specialist
PI on 1 active trial
EA
Elias Andreanidis
Specialist
PI on 1 active trial
HT
Himal L Thakar
WATERBURY, CT
Specialist
PI on 2 active trials

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Financial Resources

2 resources
Reblozyl(LUSPATERCEPT)Celgene Corporation
AQVESME(MITAPIVAT)Agios Pharmaceuticals, Inc.

Travel Grants

No travel grants are currently matched to Beta-thalassemia.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Beta-thalassemia

Disease timeline:

New recruiting trial: Safety and Efficacy of Gene Modified Autologous Hematopoietic Stem Cells to Treat Transfusion-dependent Beta-thalassemia

A new clinical trial is recruiting patients for Beta-thalassemia

New recruiting trial: Safety and Efficacy Evaluation of β-globin Restored Autologous Hematopoietic Stem Cells in β-thalassemia Major Patients

A new clinical trial is recruiting patients for Beta-thalassemia

New recruiting trial: Study of Panobinostat (LBH589) in Patients With Sickle Cell Disease

A new clinical trial is recruiting patients for Beta-thalassemia

New recruiting trial: Safety and Efficacy of Gene Modified Autologous Hematopoietic Stem Cells to Treat Transfusion-dependent β-thalassemia

A new clinical trial is recruiting patients for Beta-thalassemia

New recruiting trial: An mHealth Strategy to Improve Medication Adherence in Adolescents With Sickle Cell Disease

A new clinical trial is recruiting patients for Beta-thalassemia

New recruiting trial: ALS20-101 Lentiviral Gene Therapy for Beta Thalassemia

A new clinical trial is recruiting patients for Beta-thalassemia

New recruiting trial: Adherence of Beta Thalssemia Patients to Oral Chelation Therapy

A new clinical trial is recruiting patients for Beta-thalassemia

New recruiting trial: Repeat Peripheral Blood Stem Cell Transplantation for Patients With Sickle Cell Disease and Falling Donor Myeloid Chimerism Levels

A new clinical trial is recruiting patients for Beta-thalassemia

New recruiting trial: Study of Safety & PK of Luspatercept (ACE-536) in Pediatric Participants With Beta (β)-Thalassemia

A new clinical trial is recruiting patients for Beta-thalassemia

New recruiting trial: Effects of Hydroxyurea and Metformin in Transfusion Dependent Beta-Thalassemia

A new clinical trial is recruiting patients for Beta-thalassemia

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Common questions about Beta-thalassemia

What is Beta-thalassemia?

Beta Thalassemia is treated with 3 medications in our database, including AQVESME, AURLUMYN, Reblozyl. 1 of these has manufacturer assistance programs available to help reduce out-of-pocket costs. Medications are manufactured by Agios, Eicos, Bristol Myers Squibb. Patients and caregivers can find copay cards, patient assistance programs, and travel grants for Beta Thalassemia treatment below.

How is Beta-thalassemia inherited?

Beta-thalassemia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Beta-thalassemia typically begin?

Typical onset of Beta-thalassemia is infantile. Age of onset can vary across affected individuals.

Are there clinical trials for Beta-thalassemia?

Yes — 20 recruiting clinical trials are currently listed for Beta-thalassemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Beta-thalassemia?

25 specialists and care centers treating Beta-thalassemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.

What treatment and support options exist for Beta-thalassemia?

3 FDA-approved treatments and 2 patient support programs are currently tracked on UniteRare for Beta-thalassemia. See the treatments and support programs sections for copay assistance, eligibility, and contact details.