Overview
Thalassemia is a group of chronic hemolytic anemias caused by genetic defects, classified as single-gene hereditary blood disorders. Its core pathological mechanism lies in the impaired synthesis of hemoglobin, resulting in abnormal red blood cell morphology, shortened red cell lifespan, chronic anemia, compensatory bone marrow hyperplasia, and progressive multi-organ damage over time.
Hemoglobin, the protein in red blood cells that carries oxygen, is composed of two pairs of chains: α-globin and β-globin.
Thalassemia occurs when the production of one of these chains is reduced or absent:
- α-thalassemia: caused by abnormal α-globin chain production
- β-thalassemia: caused by abnormal β-globin chain production
These defects result from inherited gene mutations and are passed down through families.
Clinical Manifestations:
- Mild type (carrier): usually asymptomatic or presents with only mild anemia, often undetected for life.
- Intermediate type: moderate anemia that may require occasional blood transfusions.
- Severe type (also known as Cooley’s anemia): symptoms typically appear within months after birth, including severe anemia, growth retardation, bone deformities, hepatosplenomegaly, and jaundice. Long-term transfusions and iron chelation therapy are generally required.
Treatment Options
Treatment strategies for thalassemia should be individualized based on genetic type, transfusion dependency, age, complications, and organ iron load. The goals are to correct anemia, prevent or reduce complications, improve survival and quality of life, and pursue disease-modifying or curative options where possible.
Standardized Red Blood Cell Transfusion
For transfusion-dependent patients, regular and sufficient transfusions help suppress ineffective erythropoiesis, promote growth and development, and reduce complication risks.
Iron Overload Assessment and Chelation Therapy
Chronic transfusions or increased iron absorption can lead to iron accumulation in the heart, liver, and other organs. Once iron overload is detected clinically, early initiation of iron chelation therapy under medical supervision is essential, along with consistent, long-term management.
Reducing Transfusion Dependence
Some transfusion-dependent β-thalassemia patients may benefit from erythroid maturation agents, which can reduce transfusion needs and increase hemoglobin levels following specialist assessment.
Hematopoietic Stem Cell Transplantation
Hematopoietic stem cell transplantation (HSCT) remains the only established and widely recognized curative option. Outcomes are generally most favorable in pediatric patients with suitable donors. HSCT for thalassemia should be performed at an experienced specialized center, with comprehensive multidisciplinary evaluation and close management to maximize benefit and minimize risks.
Gene Therapy
Gene therapy and gene-editing approaches for transfusion-dependent β-thalassemia have been approved or entered clinical practice in some countries and regions. Their applicability depends on accessibility, long-term safety, and individualized risk–benefit assessment, requiring expert consultation at qualified centers.
Why Choose GoBroad
As a leading hematology center, GoBroad Healthcare Group provides innovative therapies to help improve your chances of successful treatment.
GoBroad holds deep expertise and internationally recognized leadership in hematopoietic stem cell transplantation, continuously advancing technology and maintaining world-class clinical outcomes.
In 1999, Professor Li Chunfu and his team performed the world’s first haploidentical hematopoietic stem cell transplantation for thalassemia, establishing a global milestone.
In 2008, the team pioneered the NF-08-TM (Southern 08 Thalassemia Transplantation Protocol), marking a breakthrough in transplantation efficacy for thalassemia.
Subsequently, the team introduced “Double Insurance” Dual Donor Hematopoietic Stem Cell Transplantation (DD-HCT) and TCRαβ-T Cell Depleted Haploidentical (TDH) transplantation, continually optimizing treatment strategies to further enhance success rates and reduce complications.
Building on its transplant leadership, GoBroad also actively explores innovative treatments such as gene therapy, providing more precise, advanced, and long-lasting solutions for patients with hematologic disorders.
Precision Diagnosis and Personalized Treatment
Successful treatment begins with accurate diagnosis. Our experts specialize in detecting subtle disease changes that may be overlooked elsewhere.
The GoBroad Precision Diagnostics Center, led by a team with more than 30 years of diagnostic experience, integrates five diagnostic modules — pathology, morphology, immunology, cytogenetics, and molecular biology (MICM) — and, through multidisciplinary collaboration, delivers precise and comprehensive diagnostic reports.
Supported by cutting-edge platforms such as mass spectrometry, flow cytometry, and next-generation sequencing (NGS), the center performs over 1,500 diagnostic tests spanning hematologic and solid tumors, providing a solid foundation for cellular and immunotherapy.
We tailor each treatment plan to your individual risk factors and disease characteristics, selecting therapies that are effective and minimize side effects. Whether outpatient or inpatient, GoBroad’s comprehensive care system provides expert, compassionate support through every stage of your treatment journey.
Our Achievements
Original Breakthrough: “NF-08-TM” (Southern 08 Thalassemia Transplantation Protocol)
In 2008, Professor Li Chunfu’s team developed the NF-08-TM protocol, raising the survival rate of thalassemia patients to over 90% — the world’s first unrelated donor transplantation program to surpass a 90% cure rate, compared with an international average success rate of about 50% at the time.
Continuous Innovation: DD-HCT (NF-14-TM-CT) Protocol
The team continued to innovate, developing the Dual Donor Hematopoietic Stem Cell Transplantation (DD-HCT) protocol based on cyclophosphamide, achieving an overall survival rate exceeding 97%, setting a new global benchmark in thalassemia transplantation success.
Reducing GVHD Risk: The TDH Transplantation Breakthrough
While matched and complementary donor transplantation already provides excellent survival outcomes, graft-versus-host disease (GVHD) remains an undesired complication in benign disorders. To further reduce GVHD risk, GoBroad developed the TCRαβ-T Cell Depleted Haploidentical (TDH) transplantation approach, achieving remarkable results:
- Implantation success rate: 97.1%
- Overall survival (OS): 96.5%
- Transfusion-free survival (TFS): 94.3%
This means that the vast majority of patients not only achieved successful engraftment but also became free from the disease itself.
With further optimization of the TDH protocol, the rate of GVHD-free and thalassemia-free survival (GTFS) has exceeded 80%, surpassing all previously reported global results — representing a major leap toward true cure without complications.
The efficacy data are derived from published studies and GoBroad Healthcare Group’s long-term follow-up results. For medical reference only. Individual outcomes may vary depending on disease type and treatment plan. Please consult with a qualified physician for a personalized treatment strategy.
Patient Stories
A patient with thalassemia major and systemic lupus erythematosus who underwent allogeneic hematopoietic stem cell transplantation (HSCT) at GoBroad Medical Center has been successfully cured and is currently undergoing follow-up. This case has been widely disseminated in the domestic media.
1. HSCT Cures Thalassemia Combined with Systemic Lupus Erythematosus
Recently, 22-year-old Anna completed the regular follow-up after HSCT at GoBroad Medical Center, and was "declared" to have overcome the two diseases of thalassemia and lupus erythematosus.
Anna was diagnosed with thalassemia major at 40 days old and was subsequently placed on a regimen of regular blood transfusions to remove excess iron from her system. In 2023, she was hospitalized with pericardial effusion and was ultimately diagnosed with SLE, which had resulted in damage to multiple organs. At the GoBroad Medical Center, Professor He Yuelin discovered that the patient exhibited an immunodeficiency through immune-related genetic testing, which may have been a contributing factor to the lupus. "We refined the immunodeficiency-related genetic testing and discovered that the patient exhibited both a geographic anemia gene defect and an immune gene defect. It was hypothesized that a hematopoietic stem cell transplant might be capable of simultaneously curing both diseases."
As evaluated by the medical team, Anna's challenges in undergoing transplantation treatment were primarily attributed to her history of nearly 20 years of blood transfusions, which had resulted in the development of antibodies. Due to the subsequent combination of lupus erythematosus, she has used immunosuppressive medications, including hormones and cyclosporine, that lead her immune system significantly compromised, increasing the risk of infection and thrombosis during the transplantation procedure.
Following extensive research and development, a TDH transplant program for Anna was finally formulated. This program, which is T-cell clearance (in vitro de-T) hemi-compatible hematopoietic stem cell transplant transplantation program, represents a significant advancement in comparison to traditional transplantation techniques. The program has been shown to result in a markedly reduced incidence of post-transplantation rejection reactions, with the vast majority of patients requiring no oral antirejection drugs. This has the potential to facilitate a much more expedient return to a normal life for Anna.
Over 200 days following the transplantation procedure, Anna has been administered minimal anti-rejection medication and has not exhibited any notable instances of rejection. Additionally, all tests pertaining to indicators associated with systemic lupus erythematosus (SLE) have yielded normal results, indicating that her overall bodily functions are within the normal range.
2. Systemic lupus erythematosus (SLE), which has a genetic basis and is characterized by the presence of immune system abnormalities, has a favorable prognosis following transplantation.
As reported by Prof. Li Chunfu of GoBroad, a study from Sweden indicated that the 25-year survival rate for SLE patients was only 60%. The primary causes of death were identified as multiple organ damage, particularly cardiovascular and kidney problems. The prognosis for SLE is poor, and for patients with SLE that develops in childhood, defects or variants in immune-related genes are often present, thus categorizing them as primary immunodeficiency diseases.
In 2019, GoBroad collaborated with Peking Union Medical College Hospital to treat the first patient with severe SLE caused by lysine-urine protein intolerance (LPI) through allogeneic hematopoietic stem cell transplantation. Tong, who was diagnosed with SLE at the age of six, underwent a genetic test that revealed the underlying cause of her condition to be lysinuria protein intolerance (LPI), a rare genetic defect that is a major risk factor for developing SLE. Subsequent to undergoing a hematopoietic stem cell transplant, Tong, who is currently 12 years of age, has resumed her normal activities.
There are many other cases of SLE caused by genetic defects or mutations like Tong. Prof. Li Chunfu said, “For SLE patients with clear genetic defects or variants, drugs, CAR-T and other treatments can only provide relief, but not cure, and as the disease progresses and drug resistance occurs, damage to multiple organs will occur. If a patient is diagnosed with SLE, especially if the disease started in childhood, the test for immunodeficiency-related genes should be perfected as soon as possible, and if the gene test is positive, it is recommended to transplant as early as possible to avoid further deterioration.”
Tiantian, a 7-year-old boy who was only 1 year old in 2017, was given a hematology test at the local children's hospital due to persistent fever. The results showed hemoglobin 50 g/L, and he was genetically diagnosed asβ-thalassemia major, with HBB double mutation in genotype. Tiantian had very obvious symptoms of anemia when he was diagnosed, and red cells transfusions were needed. As Tiantian grew older, the pressure of blood use was also increasing, and the amount of blood transfusion increased from 2 units/time to 3 units/time, almost every other month to be transfused to maintain the hemoglobin level at about 90 g/L.
In 2022, Tiantian came to GHG medical center with his parents. With the efforts of the doctor team, Tiantian received a TDH transplant. Today, Tiantian has completely discontinued the drug and returned to a happy childhood life.
"We know that the GHG medial team's thalassemia transplant success rate is 97%, and we chose to trust the team's decades of experience in thalassemia transplant compared to the possible risks. He went to the hospital for blood transfusion and iron chelation every month and was hospitalized for at least 2 days. Since injections were too many with vasoconstriction, the injection might succeed after 2-3 times of trying, we felt very distressed as his parents. Thanks to the doctors and nurses. It is they that make Tiantian now have a normal, and happy childhood like other children."
