Sickle cell disease (severe)
About
Sickle cell disease is caused by mutations in the HBB gene that lead to the production of hemoglobin S (HbS). Under hypoxia, red blood cells sickle, leading to blood vessel occlusion and hemolysis. Core dilemmas: ① Repeated vascular occlusive crises lead to organ damage;② Chronic pain and acute pain crises seriously affect quality of life;③ Although gene therapy (Casgevy/Lyfgenia) has been approved, it is extremely expensive and its long-term efficacy remains to be observed.
Features & Symptoms
- HBB gene mutation
- Hemoglobin S (HbS)
- red blood cell sickling
- Vascular occlusive crisis
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| Exagamglogene autotemcel（Casgevy） | CRISPR/Cas9 gene-edited autologous hematopoietic stem cells will be approved by the FDA in 2023. It can be functionally cured after a single dose. | FDA批准 | $2.2M/次（一次性） |
| Lovotibeglogene autotemcel（Lyfgenia） | Lentivirus vector genetically modified autologous hematopoietic stem cells will be approved by the FDA in 2023. | FDA批准 | $2.1M/次（一次性） |
| allogeneic hematopoietic stem cell transplantation | Homely matched sibling donor transplantation is the only method that can cure the disease, with a success rate of>90%. | 临床应用 | $300K - $800K/次 |
Prognosis
The median survival period under modern management is about 40-50 years
Additional Notes
Notes: Gene therapy assessment: Lovo-cel and Exa-cel have been approved for severe SCD, which requires evaluation of a history of viral exposure and a hematopoietic stem cell mobilization regimen; pain management: Multidisciplinary pain management is required, and adequate analgesia (including opioids) should be used in acute pain crises; Infection prevention: Patients with low spleen function require lifelong preventive penicillin and pneumococcal vaccination; Stroke prevention: Transcranial Doppler ultrasound (TCD) screening can identify children at high risk of stroke and is recommended for annual examination; Hydroxyurea: Hydroxyurea is the basic treatment for SCD and reduces pain crises and acute thoracic syndromes. 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: The median survival time under modern management is about 40-50 years.
Frequently Asked Questions
What is Sickle cell disease (severe)?
Sickle cell disease is caused by mutations in the HBB gene that lead to the production of hemoglobin S (HbS). Under hypoxia, red blood cells sickle, leading to blood vessel occlusion and hemolysis. Core dilemmas: ① Repeated vascular occlusive crises lead to organ damage;② Chronic pain and acute pain crises seriously affect quality of life;③ Although gene therapy (Casgevy/Lyfgenia) has been approved, it is extremely expensive and its long-term efficacy remains to be observed.
What are the symptoms of Sickle cell disease (severe)?
HBB gene mutation,Hemoglobin S (HbS),red blood cell sickling,Vascular occlusive crisis
How is Sickle cell disease (severe) treated?
Exagamglogene autotemcel（Casgevy）: CRISPR/Cas9 gene-edited autologous hematopoietic stem cells will be approved by the FDA in 2023. It can be functionally cured after a single dose.; Lovotibeglogene autotemcel（Lyfgenia）: Lentivirus vector genetically modified autologous hematopoietic stem cells will be approved by the FDA in 2023.; allogeneic hematopoietic stem cell transplantation: Homely matched sibling donor transplantation is the only method that can cure the disease, with a success rate of>90%.
What is the prognosis for Sickle cell disease (severe)?
The median survival period under modern management is about 40-50 years