β-thalassemia major
About
β-thalassemia severe is caused by severe mutations in the HBB gene that lead to severe reduction or deletion of β-globin chain synthesis. The patient developed severe anemia 6-12 months after birth and required regular blood transfusions for life. Core dilemmas: ① Lifelong blood transfusion leads to iron overload, requiring continuous iron removal treatment;② Poor compliance with iron removal treatment leads to damage to the heart, liver, and endocrine organs;③ Allogeneic transplantation is a radical cure but difficult to match;④ Gene therapy (Zynteglo) Although approved, the price is extremely high.
Features & Symptoms
- Severe defect in the beta globin gene
- Disease occurs 6-12 months after birth
- Severe anemia relies on blood transfusions
- Iron overload causes multiple organ damage
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| Betibeglogene autotemcel（Zynteglo） | Autologous CD34 + cells were modified with lentivirus vectors and then reinjected, and will be approved by the FDA in 2022. After a single dose, blood transfusion dependence can be eliminated. | FDA批准 | $2.8M/次（一次性） |
| allogeneic hematopoietic stem cell transplantation | Totally matched sibling donor transplantation is a radical treatment with a success rate of>90%. Low success rates for unrelated donors or cord blood transplants. | 临床应用 | $300K - $800K/次 |
| Genetically edited autologous stem cells (CTX001) | CRISPR/Cas9 edits the BCL11A enhancer to reactivate fetal hemoglobin. It is currently in the clinical trial stage. | Phase III | $2M - $3M/次（一次性） |
Prognosis
Standardized blood transfusion to remove iron can survive until 40-50 years old
Additional Notes
Notes: Blood transfusion plan: It is recommended to maintain Hb>90-105g/L and blood transfusion every 2-5 weeks to suppress ineffective bone marrow hematopoiesis; iron elimination management: Standardizing iron elimination treatment is the key to prolonging survival, and iron elimination should be started when serum ferritin>1000μg/L (Deferoxamine, deferione, or deferasirox); Gene therapy evaluation: Zynteglo has been approved for use in patients with β-thalassemia who require regular blood transfusions, and the degree of liver fibrosis and history of virus exposure need to be evaluated; Transplantation evaluation: Sib well-matched hematopoietic stem cell transplantation is the only possible cure method at present and should be evaluated as soon as possible; Cardiac iron load monitoring: T2* MRI cardiac iron load monitoring is the gold standard for assessing cardiac iron deposition.; Exclusive service commitment: The platform will allocate a dedicated medical team to each patient to assist in dismantling and properly deploying the following precautions throughout the process. When cross-state and cross-border diagnosis and treatment projects or drugs are involved, the platform will make overall arrangements for the entire docking; for disabled and semi-disabled patient groups, the platform will provide rush-free alternative solutions (including remote consultation, door-to-door sampling, direct drug delivery in the cold chain, etc.), to ensure that patients can get the same high-quality diagnosis and treatment resources without having to travel in person.; Study phase: FDA approval. Prognosis: Standardized blood transfusion to remove iron can survive to 40-50 years.
Frequently Asked Questions
What is β-thalassemia major?
β-thalassemia severe is caused by severe mutations in the HBB gene that lead to severe reduction or deletion of β-globin chain synthesis. The patient developed severe anemia 6-12 months after birth and required regular blood transfusions for life. Core dilemmas: ① Lifelong blood transfusion leads to iron overload, requiring continuous iron removal treatment;② Poor compliance with iron removal treatment leads to damage to the heart, liver, and endocrine organs;③ Allogeneic transplantation is a radical cure but difficult to match;④ Gene therapy (Zynteglo) Although approved, the price is extremely high.
What are the symptoms of β-thalassemia major?
Severe defect in the beta globin gene,Disease occurs 6-12 months after birth,Severe anemia relies on blood transfusions,Iron overload causes multiple organ damage
How is β-thalassemia major treated?
Betibeglogene autotemcel（Zynteglo）: Autologous CD34 + cells were modified with lentivirus vectors and then reinjected, and will be approved by the FDA in 2022. After a single dose, blood transfusion dependence can be eliminated.; allogeneic hematopoietic stem cell transplantation: Totally matched sibling donor transplantation is a radical treatment with a success rate of>90%. Low success rates for unrelated donors or cord blood transplants.; Genetically edited autologous stem cells (CTX001): CRISPR/Cas9 edits the BCL11A enhancer to reactivate fetal hemoglobin. It is currently in the clinical trial stage.
What is the prognosis for β-thalassemia major?
Standardized blood transfusion to remove iron can survive until 40-50 years old