Guangxi's fight against thalassemia offers new hope to patients worldwide

Borneo Post

5 days ago

File photo taken on Nov 17, 2023 shows Nina walking to the transplant ward accompanied by medical staff at the First Affiliated Hospital of Guangxi Medical University in Nanning, south China's Guangxi Zhuang Autonomous Region. – Xinhua photo
NANNING (July 17): For seven-year-old Nina from Laos, a diagnosis of thalassemia major cast a long shadow over her and her family.
This blood disorder, which impairs a person's ability to produce functional hemoglobin – the protein in red blood cells that carries oxygen throughout the body – meant a future tethered to monthly transfusions and rigorous iron-chelation therapy to cope with toxic iron buildup in her bloodstream.
Without potent medical intervention, iron overload could wreak havoc on her organs, leading to heart failure and an early death.
Desperate for a cure, Nina's family turned to the First Affiliated Hospital of Guangxi Medical University in south China's Guangxi Zhuang Autonomous Region in 2023, drawn by its excellent track record for tackling this debilitating disease.
Under the expert care of Liu Rongrong, a top hematologist at the hospital, Nina underwent an allogeneic hematopoietic stem cell transplant in early 2024.
Her father, a compatible donor, provided the stem cells that helped her rebuild the entire blood system.
'The transplant has hitherto been the only clinically proven and widely available method to cure severe thalassemia, especially for young patients,' said Liu.
'And the advances in transplant techniques and supportive care have significantly reduced risks, such as donor cells attacking the recipient's body, infections, and graft failure.'
After 98 days of intensive monitoring, Nina walked out of the transplant ward last March, free from transfusion-dependent thalassemia, becoming the first international patient to have ever received a successful transplant for this disease at the hospital.
'The idea of living with severe thalassemia for the rest of one's life is positively daunting,' said Liu.
'Regular transfusions are a mere stopgap; without a transplant, patients' lives are often cut tragically short.'
For a region where the gene for thalassemia lurks in nearly one in four of its population, the gravity of the challenge facing Guangxi can not be overstated.
With the launch of the region-wide campaign focusing on disease prevention in 2010, Guangxi officially began its quest to eradicate this debilitating disease.
Over a decade later, the number of newborns affected with severe thalassemia has plummeted to single or low double digits, with an incidence rate below 0.3 per 10,000 births, according to the region's health authorities.
This success, often referred to by many medical professionals as the 'Guangxi Model', is based on a multi-pronged strategy that includes comprehensive screening, free medical services, advanced treatment, and cutting-edge research.
In addition to the initial screening, genetic diagnosis, and prenatal testing for high-risk pregnancies, Guangxi also included follow-up checkups for potential carriers and medical intervention for fetuses diagnosed with severe thalassemia in the list of subsidised medical services designed to mitigate the impact of this disease in 2019.
By the end of 2024, Guangxi had a network of 101 reproductive health centers, three regional prenatal diagnostic centers, 14 municipal diagnostic hubs, and 88 county-level screening laboratories, increasing access for all families, even in some of the region's most remote areas.
Between 2010 and 2024, approximately 4.67 million couples received free premarital checkups in these facilities across Guangxi.
And 'these facilities are often set up on the same floor as local registry offices where the couples collect their marriage licence,' said Xia Suhu with Guangxi Maternity and Child Health Care Hospital.
'It has become a common sight that the brides and the grooms, all dressed up, undergo health checkups after getting their marriage licences.'
'The goal has always been prioritising prevention,' said Xia.
'Early detection allows families to make more informed decisions concerning family planning and lower the long-term healthcare expenses related to managing this disease.'
On the scientific front, the region has consistently invested in research, which is the cornerstone of the 'Guangxi Model' for the disease prevention, according to He Sheng, a researcher with Guangxi's Birth Defects Prevention and Control Institute, whose team has helped scale up the region's capability to screen thalassemia mutations through developing tools like chromosomal chips and high-throughput sequencing test kits.
Today, the screening and diagnostic protocols based on the 105 rare or novel mutations that He's team identified have now become standard across Guangxi's free thalassemia prevention service scheme.
And for those afflicted with thalassemia, Guangxi has also expanded its treatment capacity, having opened 88 transplant wards.
Between 2019 and the first half of 2024, 1,166 stem cell transplants were performed.
'Nina's successful transplant highlights decades of experience and expertise we possess in this specialised field,' said Chen Junqiang, vice president of Guangxi Medical University.
'It also speaks to our readiness to extend our services to patients beyond our borders.'
Guangxi's experience in battling against thalassemia has contributed to improving the quality of the newborn population, said Li Junjun, deputy director of Guangxi's health commission.
Globally, Guangxi has partnered with countries particularly susceptible to thalassemia through a collaborative network of prevention training centers.
To date, over 1,000 professionals from 13 countries have graduated from the training programmes offered by the centers and returned to their communities, including Nina's homeland.
For Nina and her family, the impact has been profound. She celebrated her sixth birthday in a transplant ward in Guangxi last year, surrounded by her father and medical staff.
A year later, back in Laos, the latest checkup confirmed her recovery, and she blew out the candles for her seventh birthday, her wish for a healthy, normal life now a reality. – Xinhua China Guangxi Medical University thalassemia Xinhua