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.”