For many patients living with thalassemia, life revolves around regular blood transfusions. While the routine is life-saving, it comes with physical pain, emotional exhaustion, and endless hospital visits.
However, thanks to groundbreaking advancements in gene therapy, a brighter future is now possible—for both β-thalassemia and, more recently, α-thalassemia patients.
This is the inspiring story of Anna, a 14-year-old girl whose life has been transformed by the power of gene therapy.
Gene Therapy is bringing new hope to patients with Thalassemia. (Image: AI Generated)
“I Just Want to Be Normal”
Anna was only eight years old when she was diagnosed with HbH-CS α-thalassemia, a severe form of the disease commonly found in southern China. Genetic testing revealed that she carried specific mutations (--SEA/αCSα) that caused chronic anemia.
To survive, Anna needed blood transfusions every month—about 600mL of red blood cells (three units). These transfusions kept her alive but came at a heavy cost.
The needles hurt. The hospital trips were tiring. The constant need for transfusions cast a shadow over her childhood. While other children were carefree, Anna’s life was dictated by her disease.
“I just want to be normal,” she often said—a simple wish from a little girl burdened by a condition beyond her control.
A New Hope: Gene Therapy
In February 2023, when Anna was 12 years old, her family learned about a clinical trial led by Hemogen, a subsidiary of the BGI Group, specializing in cutting-edge gene therapy for thalassemia. With hope in their hearts, Anna and her family decided to take a leap of faith and join the trial.
At the center of the treatment was HGI-002, a revolutionary gene therapy drug based on the patient’s own hematopoietic (blood-forming) stem cells. The process works by extracting the patient’s stem cells and using a lentivirus to introduce a functional α-globin gene into the cells. These modified cells are then returned to the patient’s body, helping red blood cells restore the balance of α- and β-globin chains and the proper function of hemoglobin. This treatment offers a path for thalassemia patients to break free from their dependence on transfusions.
Anna’s treatment included the following steps:
● Stem Cell Mobilization: Her own blood stem cells were collected.
● Pre-Treatment: Her body was prepared for the therapy.
● HGI-002 Infusion: The modified stem cells, now containing functional α-globin genes, were returned to her body.
The therapy was designed to address the root cause of her condition—helping Anna’s body produce healthy red blood cells and restoring the balance of hemoglobin.
Remarkable Progress
The results were nothing short of miraculous. Within just four weeks after the therapy:
● Day 17: Anna’s platelets recovered.
● Day 19: Her neutrophils (a type of white blood cell) returned to normal.
● Day 25: Her hemoglobin levels surpassed 90g/L, the threshold for independence from transfusions.
● Day 28: Anna was discharged, her body stable and healthy.
Even more remarkable, Anna experienced no side effects from the gene therapy.
Two Years of Freedom and Counting
Anna’s journey didn’t end when she left the hospital. Over the next two years, she attended regular check-ups to monitor her progress. The results were consistently positive, showing just how effective the treatment had been.
She no longer needed regular transfusions. In two years, Anna required only two transfusions, both due to unrelated illnesses (a fever and a lung infection). Her hemoglobin levels stayed above 90g/L, allowing her to live like any other teenager.
Blood tests revealed that 85% of her hemoglobin was now the healthy HbA, which effectively carries oxygen throughout her body. This was definitive proof that the therapy had corrected the underlying problem.
Without the burden of transfusions, Anna grew taller and stronger, catching up with her peers in height and weight. Her immune system also improved significantly, and she rarely got sick. Over two years, Anna experienced no long-term side effects from the gene therapy, proving it to be both safe and life-changing.
Today, Anna is living her dream of being a normal teenager.
Anna’s Message of Hope
Anna’s story is a beacon of hope for the millions of people living with α-thalassemia around the world. Thanks to Hemogen’s innovative work and the support of the BGI Group, her life has been completely transformed.
For decades, β-thalassemia patients have benefited from gene therapy breakthroughs. Now, Anna’s success proves that α-thalassemia patients also have a chance to escape the limitations of their condition.
Anna’s journey reminds us of the importance of supporting individuals and families affected by thalassemia. Whether it’s through funding more research, raising awareness, or simply offering kindness and encouragement, every effort makes a difference.
BGI Group is committed to making gene therapy more accessible and affordable to ensure that every child with thalassemia can live free from the burden of transfusions. They aim to give children the opportunity to run, play, and dream—just like any other child. Anna’s story is proof that this dream is within reach.
To Anna, all the brave patients like her, and everyone in the thalassemia community: You are not alone. Your strength inspires us to continue advancing research and developing better treatments for a brighter future. With science progressing every day, there is hope for a world where no child has to live under the shadow of this disease.
(Anna is a pseudonym to protect the identity of the patient.)