Breakthrough: China's gene editing technology successfully treats adult severe thalassemia

Editor's note: The clinical research in which Reforgene participated as the drug R&D institution was recently reported by Guangxi News Network and Nanguo Morning Post, causing widespread response, and was reprinted by multiple mainstream media including People's Daily Online, Tencent News and Sina News.

Guangxi cures adult severe thalassemia through gene therapy for the first time

Doudou (pseudonym), an 18-year-old patient with severe thalassemia, recently received gene therapy at the 923rd Hospital of the PLA and has now escaped transfusion dependence, achieving "liberation from thalassemia". This is the first successful case in China of using gene editing technology to treat adult severe beta-thalassemia.

The news, like a shot in the arm, spread rapidly among adult thalassemia patients in Guangxi and across the country, finally giving this "extremely disadvantaged group" of thalassemia patients hope. Doudou and her grandmother have sustained this hope through 18 years of hardship.

No matter how hard it is, the granddaughter must be raised

The process of every thalassemia child growing up is full of unimaginable hardship, and Doudou is no exception. People who know her often say that this child was born with the disease, how unfortunate. The fortune in misfortune is that she has "the best grandmother in the world".

Three months after Doudou was born, she developed tea-colored urine and was eventually diagnosed with severe thalassemia. On the day she received the diagnosis, Doudou's grandmother's hair turned white overnight. She tried desperately to plan a possible future for her little granddaughter, but could not see any hope.

Later, Doudou's parents divorced and remarried separately, and her grandmother became her only support, bearing everything with astonishing perseverance, vowing to raise her granddaughter to adulthood.

Thalassemia children need regular blood transfusions. "I don't want others to know she is sick; leaving early means no one sees." Every time they went to Nanning for a transfusion, at 5 a.m. before dawn, the grandmother would set off with Doudou on her bicycle, riding from their home in Wuming to the bus stop and then taking two buses to reach the hospital; a one-way trip took more than 2 hours.

When Doudou started school, to protect the child's self-esteem, the grandmother showed the homeroom teacher all of Doudou's medical records after the first parents' meeting, asking the teacher to take extra care of the child without revealing her condition. But later, some classmates still noticed something and began to distance themselves from Doudou. After much thought, the grandmother discussed with the homeroom teacher and went to the class herself to explain to the students what "thalassemia" is: "Once it is explained clearly, they won't be afraid." After that, Doudou received much help from classmates, parents, teachers and social charity organizations.

Blood shortage is the biggest nightmare for thalassemia families. Some places require the hemoglobin of thalassemia children to fall below a certain level before transfusion is allowed, but the longer a child's body remains in a state of ischemia, the more severe the damage to organ function, which is also why many thalassemia children find it hard to grow up. "I won't let her hemoglobin drop that low; she must receive proper transfusions." Over the years, to the heads of transfusion departments at major hospitals in Nanning, Doudou's grandmother was the most troublesome, yet also the most moving. In the hardest times, there was no blood, no medicine and no money, but the grandmother persevered through it all.

The granddaughter doesn't look like a thalassemia child, while the grandmother is riddled with illness

The grandmother took meticulous care of Doudou. Doudou did not have the common "thalassemia face" of a distended belly from hepatosplenomegaly or a flat nasal bridge; she had a delicate, pretty appearance, which is rare among thalassemia children.

For this, the grandmother, now 70 years old, is riddled with illness. She has had femoral head necrosis for ten years, and years of hard work have caused lumbar disc herniation; every step hurts, yet she is reluctant to spend money treating herself, relying entirely on painkillers. For a while, long-term malnutrition nearly made her faint several times. The doctor told her she must be hospitalized, but she refused: "All the money must be spent on Doudou."

Over the years, because of Doudou's condition, the grandmother became the "head" of thalassemia parents in the Wuming area. She established a thalassemia parents' group for mutual help, and organized parents to take to the streets every month to promote thalassemia science education.

Gene editing technology gives adult thalassemia patients hope of "liberation from thalassemia"

Because she had no siblings and no suitable donor could be found, Doudou missed the opportunity to be cured of thalassemia through hematopoietic stem cell transplantation. She thought she was destined never to be "liberated from thalassemia", but unexpectedly, the rapid development of gene technology brought new hope.

Since March 2021, the 923rd Hospital of the PLA, in cooperation with research teams from Shanghai and Guangzhou, has successfully cured 6 children with severe beta-thalassemia using gene editing technology.

Professor Zhang Xinhua of the 923rd Hospital introduced that, affected by factors such as many blood transfusions, iron overload and long-term organ function damage, adult patients have almost lost the opportunity to be "liberated from thalassemia" through hematopoietic stem cell transplantation. Gene therapy corrects the patient's own defective hematopoietic stem cell system through gene editing technology. The gene-edited hematopoietic stem cells reinfused into the patient carry no risk of rejection. Compared with hematopoietic stem cell transplantation, the requirements on the patient's physical condition are much lower, so for adult patients with severe beta-thalassemia, gene therapy is worth looking forward to.

Doudou was admitted to hospital in early February this year, received the reinfusion of gene-edited hematopoietic stem cells on February 15, and escaped transfusion dependence about 20 days later, declaring "liberation from thalassemia".

Doudou, who temporarily suspended school for treatment, will continue preparing for the college entrance examination after recovery. She looks forward to "taking her grandmother to university". "Next it's my turn to take care of my grandmother," she said happily. (Reported by Guangxi News Network and Nanguo Morning Post, author Zhang Ruofan) Original: Guangxi News Network.