Imagine a life where survival hinges on regular blood transfusions because your body cannot produce enough hemoglobin. In this scenario, insufficient oxygen reaches your organs, leading to chronic fatigue, weakness, and a pale or yellowish complexion. Growth may become stunted, the abdomen can swell, and facial bones might deform.
This is the reality for individuals with thalassemia, a genetic condition that affects approximately 4.4 out of every 10,000 live births worldwide. Thalassemia does not discriminate between males and females, as it is inherited in an autosomal recessive pattern.
A newborn with his mother in the hospital. Approximately 4.4 out of every 10,000 live births worldwide has thalassemia. (Credit: Zcool Stock Images)
The prevalence of thalassemia is particularly high in Southeast Asia. In this region, up to 30% of individuals carry the thalassemia trait, with up to 40% of those being potential carriers of Alpha-thalassemia and up to 11% affected by a Beta-thalassemia gene mutation. The abnormal genes in different combinations lead to over 60 different thalassemia syndromes, making Southeast Asia the region with the most complex thalassemia genotypes.
Thailand is one of the countries in Southeast Asia affected by thalassemia. The Thai Ministry of Public Health reports that approximately 18-24 million people, or 30-40% of the population, carry the thalassemia gene. Professor Dr. Sakorn Pornprasert from Chiang Mai University provides a stark perspective: "For every thousand pregnancies, there could be six cases of severe thalassemia."
These figures highlight the need for national awareness and action. In response, the Ministry of Public Health in Thailand has implemented a comprehensive thalassemia policy that includes screening, diagnosis, and treatment. Notably, 72.5% of Thai women are reported to be proactive in seeking genetic counseling and preimplantation genetic diagnosis (PGD) when both partners are carriers, a rate that surpasses the global average.
BGI Group is actively participating in these efforts, particularly through the "Screening, Diagnosis, Treatment" closed-loop program, which is tailored to thalassemia management. This program results from a collaboration between BGI Group and local Thai agencies, such as the Eastern Economic Corridor (EEC) Office and the Thai Ministry of Health, to initiate clinical trials for gene therapy for thalassemia. Renowned institutions, including the Faculty of Medicine Siriraj Hospital at Mahidol University, Chulalongkorn University's Faculty of Medicine, and the Thai Clinical Research Center are partnering with BGI Genomics, a subsidiary of BGI Group, to streamline thalassemia gene screening and treatment processes.
In July 2023, a memorandum was signed between BGI Genomics, the Faculty of Medicine Siriraj Hospital at Mahidol University, Bangkok Genomics Innovation (BKGI, a Thai joint venture company of BGI Genomics), and Hemogen Hongkong Alpha Technology to enhance thalassemia prevention and treatment.
In July 2023, a memorandum was signed to enhance thalassemia prevention and treatment. This agreement between BGI Genomics, the Faculty of Medicine Siriraj Hospital at Mahidol University, Bangkok Genomics Innovation (BKGI, a Thai joint venture company of BGI Genomics), and Hemogen Hongkong Alpha Technology aims to advance research and clinical trials for gene therapy in Thailand. The partnership also seeks to evaluate the efficacy of high-throughput sequencing-based technologies compared to traditional screening methods, which holds potential to improve early detection of thalassemia in Thailand.
Additionally, BGI Group is collaborating with the Faculty of Associated Medical Sciences at Chiang Mai University to conduct a comparative study on the performance of Thailand's current screening method versus BGI’s screening technology for thalassemia.
BGI Group's track record speaks volumes, with its gene therapy offering successful outcomes. Since February 2021, the Shenzhen Children's Hospital, in collaboration with Hemogen, a subsidiary of BGI Group, has pioneered gene therapy based on autologous hematopoietic stem cell transplantation (HCT) for patients with severe thalassemia. To date, all five children who have undergone this treatment have achieved clinical remission and no longer require blood transfusion therapy. Such success offers hope for patients with severe thalassemia in Thailand.
As Thailand continues to address the challenges posed by thalassemia, these collaborative efforts represent a beacon of hope. The synthesis of innovative technology, dedicated research, and a committed community is making significant strides towards a future where thalassemia no longer casts a shadow over lives. With every step forward, the goal of eliminating the dependence on blood transfusions grows closer, bringing renewed hope to those affected by this condition.
Source:
Thalassemia Prevalence
https://www.news-medical.net/health/Thalassemia-Prevalence.aspx
Haemoglobinopathies in Southeast Asia
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237250/
“โรคโลหิตจางธาลัสซีเมีย” โรคทางพันธุกรรมที่น่าเป็นห่วงในประเทศไทย
https://pr.moph.go.th/?url=pr/detail/all/02/116500
Advancing Thalassemia Prevention and Treatment in Thailand | BGI Update
https://www.bgi.com/global/news/advancing-thalassemia-prevention-and-treatment-in-thailand
BGI Genomics 2023 Global State of Thalassemia Awareness Report
https://www.bgi.com/global/news/bgi-genomics-global-2023-state-of-thalassemia-awareness-report
Medical Sciences Dean - Elevate Trust to Enhance Thalassemia Screening in Thailand
https://www.bgi.com/global/news/elevate-trust-to-enhance-thalassemia-screening-thailand
Driving Health Outcomes through Precision Medicine Applications | Biospectrum Asia
https://www.bgi.com/global/news/driving-health-outcomes-precision-medicine-biospectrumasia
Dr. Liu Sixi of Shenzhen Children's Hospital: Gene Therapy for Thalassemia Offers Hope to Patients with Severe Conditions