May 8 marks International Thalassaemia Day, a pivotal moment for raising global awareness about a genetic disease that affects millions. This year, the theme is “Together for Thalassaemia: Uniting Communities, Prioritising Patients,” a powerful call to action that places patients at the heart of thalassaemia care and inspires our communities to stand strong, united in their diversity.

Theme for the International Thalassaemia Day 2025 (Credit: Thalassaemia International Federation (TIF) Official Website)

Thalassaemia: A Global Threat

Thalassaemia is a serious inherited blood disorder that reduces the body’s ability to produce functional hemoglobin, leading to severe anemia and organ damage. Without effective prevention or long-term treatment, it can be life-threatening. Worldwide, about 4.4 per 10,000 births are affected.

In Southeast Asia, where the prevalence of thalassaemia is particularly high, more than 30% of the population carries the thalassaemia gene for alpha-thalassemia, and 11% are affected by thalassaemia mutations of beta-thalassemia.

To address this global issue, BGI Group is dedicating to combating thalassaemia through prevention and treatment, as well as global collaboration.

A newborn with his mother in the hospital. Approximately 4.4 out of every 10,000 live births worldwide has thalassaemia. (Credit: Zcool Stock Images)

Advancing Early Detection with Genomics

Traditional screening methods are limited, requiring multiple blood tests and clinic visits, which are time-consuming and may miss critical opportunities for prenatal diagnosis, especially for rare mutations. In contrast, high-throughput sequencing offers enhanced accuracy, higher sensitivity, and broader detection coverage. In regions with high disease prevalence, this approach has significantly improved early diagnosis rates and reduced misdiagnoses.

BGI Group has pioneered the application of high-throughput sequencing technology in thalassaemia screening. In 2022, BGI Genomics, a subsidiary of BGI Group, received CE-IVDD certification for its Thalassemia Gene Detection Kit (Combinatorial Probe-Anchor Synthesis Sequencing Method). This kit uses peripheral blood samples for the genetic diagnosis of patients and suspected carriers of alpha and/or beta thalassemia, abnormal hemoglobinopathies, and for population screening of these mutations.

BGI Group is also raising the global awareness of thalassaemia. BGI Genomics has launched a global thalassemia awareness survey to assess the level of knowledge and attitudes related to the associated health risks, thalassemia carrier screening, and genetic counseling for carriers. In November 2023, BGI Genomics released the Global State of Thalassemia Awareness Report, and by examining these key areas, this report seeks to highlight the associated barriers and opportunities.

In January 2025, the Thalassemia International Federation (TIF) and BGI Genomics jointly hosted an educational webinar focused on thalassemia prevention in high-prevalence regions. Experts emphasized that thalassemia is a preventable disease and high-throughput sequencing technologies can accelerate prevention efforts.

BGI Genomics is also working to establish an international academic consortium for thalassaemia prevention. This consortium aims to develop and apply new technologies, build a comprehensive database of pathogenic variants, and support best clinical practices for screening and diagnosis. By January 2025, the consortium had provided 20,000 tests across over 7,000 families for HLA typing for thalassemia major, as well as offering free implementation of new technologies for pilot projects and additional support for study design.

Gene Therapy: A New Hope for Thalassaemi

Traditional thalassaemia treatment often relies on regular blood transfusions, which can lead to iron overload and damage to vital organs like the heart and liver. Alternatively, BGI Group has independently developed pioneering gene therapy solutions for thalassaemia. The therapy first extracts the patient’s blood stem cells that carry the defective gene. Using a lentiviral vector, a self-inactivating virus, healthy genes that can produce hemoglobin are injected into these cells. The new modified stem cells then are infused back into the patient’s bloodstream.

BGI laboratory technicians are examining test results.

By December 2024, this therapy had enabled six children with severe thalassaemia to achieve transfusion independence, with one child living transfusion-free for over four years.

“Ivanka” (right) with Dr. Yin Ye, CEO and Executive Director of BGI Group.

One success story is “Ivanka,” a young girl from Xishuangbanna, Yunnan Province, who was diagnosed with severe thalassaemia. Her case came to the attention of BGI Group, and in December 2023, accompanied by her father, Ivanka traveled to Shenzhen to receive specialized care at BGI Group’s global headquarters.

Over the course of a year, she underwent consistent high-volume blood transfusions to stabilize her hemoglobin levels. Finally, in October 2024, Ivanka received a life-saving hematopoietic stem cell transplant. One month later, her test results showed her hemoglobin levels were finally normal.

Caring for thalassaemia requires a whole-society effort. BGI Genomics is a co-founder of the Hua Foundation, which offers aid to patients with severe thalassaemia and leukemia and supports public welfare and scientific education activities related to the diagnosis and prevention of rare diseases. The foundation provides free matching tests to patients with severe thalassaemia worldwide. As of March 2025, the foundation had provided tests for 22,132 cases involving 7,442 families and successfully found complete matches for 810 young patients.

Working Globally to Make a Difference

In addition to offering technology and services, BGI Group is actively participating in global collaborations to address this health issue.

In Central Asia, BGI Group is playing a key role. In September, 2022, the Azerbaijan Thalassaemia Center and BGI Genomics held a virtual signing ceremony for a collaboration agreement. This partnership aims to improve thalassaemia screening in Azerbaijan through genetic technology.

BGI Genomics’ thalassaemia genetic testing solution have also received approval in Saudi Arabia and India, respectively.

In Southeast Asia, BGI Group is helping local communities fight this disease. In Thailand, BGI Group is actively supporting Thailand through the ‘Screening Diagnosis Treatment’ program, which is tailored to thalassaemia management. The program is a collaboration between BGI Group and local Thai agencies, such as the Eastern Economic Corridor Office and the Thai Ministry of Public Health, to initiate clinical trials for gene therapy for thalassaemia.

In July 2023, a memorandum was signed between BGI Genomics, the Faculty of Medicine Siriraj Hospital at Mahidol University, Bangkok Genomics Innovation, and Hemogen Hongkong Alpha Technology to enhance thalassaemia prevention and treatment. The partnership aims to advance research and clinical trials for gene therapy and to evaluate the efficacy of high-throughput sequencing-based technologies compared to traditional screening methods, potentially improving early detection in Thailand.

Bangkok Genomics Innovation, a Thai joint venture of BGI Genomics, in collaboration with Thailand's Ministry of Health and Mahidol University, is leveraging BGI's advanced gene screening technology to assess detection rates, effectiveness, and accuracy against traditional Thai screening methods.

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 every thousand pregnancies, there could be six cases of severe thalassaemia,” explained Prof. Sakorn Pornprasert, Dean of the Faculty of Associated Medical Sciences at Chiang Mai University. “It will be very beneficial if we can use BGI technology to identify novel mutations, design specific probes and primers to diagnose new mutations, and then adapt this technology for routine laboratory diagnosis of specific types of novel mutations.”

In Indonesia, BGI Genomics is leading efforts to expand access to advanced thalassaemia screening in Indonesia. Through its joint venture with NALEYA Genomics, BGI Genomics powers NALEYA-THALASEQ - Indonesia’s first next-generation sequencing (NGS)-based genetic screening test. Leveraging advanced NGS technology, BGI Genomics enables accurate identification of thalassaemia carrier status, helping more individuals and families make informed health decisions. In addition, BGI Genomics offers VISTA™ Thalassemiaseq, a globally available test designed to help couples determine their thalassaemia carrier status before or during pregnancy. This simple test requires only a small blood sample and provides crucial information for informed family planning.

BGI Group continues to lead the global fight against thalassaemia through relentless innovation, scientific excellence, and international collaboration. By advancing genetic screening, pioneering gene therapy, and supporting local communities, BGI Group is not only transforming the landscape of thalassaemia care but also setting new standards for genetic disease prevention and treatment worldwide.

As International Thalassaemia Day 2025 calls for unity and action, BGI Group reaffirms its unwavering commitment to eradicating thalassaemia. With every partnership, research breakthrough, and patient supported, BGI Group brings the world one step closer to a future where thalassaemia is no longer a life-threatening disease, but a preventable and curable condition—bringing hope, health, and a brighter tomorrow to families across the globe.