Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that affects about 300 million people worldwide. Treatments for moderate to severe thalassemia include frequent blood transfusions, chelation therapy to remove excess iron from the blood, and hematopoietic stem cell transplantation (HSCT).

In line with the theme of this year's International Thalassemia Day – "Be Aware. Share. Care", BGI Genomics will co-host an event with the Shenzhen Municipal Health Commission for thalassemia patients and their family members on May 6, 2023, in Shenzhen, China, providing tips on thalassemia control and leading an HSCT donation drive. 

This event will be followed by a seminar and another HSCT donation drive for children with thalassemia in Chenzhou, Hunan province, China, on May 8, 2023 – International Thalassemia Day – where BGI Genomics will participate.  

"BGI Genomics is a world leader in genomics research and has been dedicated to the prevention and treatment of thalassemia for many years," commented Shiping Chen, BGI Genomics Senior Product Manager. "We are working towards a vision that in a not-too-distant future there will be a world without this disease."

Contributing to thalassemia control worldwide

The company seeks to reach beyond China to countries along the 'Belt and Road Initiative' to achieve comprehensive thalassemia control jointly, such as Azerbaijan, one of the countries with the highest prevalence rate of thalassemia worldwide. On May 3, 2023, the BGI Genomics Satellite Symposium was held at the AZLTK & LAB EXPO 2023, where experts discussed the application of next-generation sequencing to prevent congenital disabilities, including thalassemia.

AZLTK & LAB EXPO 2023

In September 2022, the Azerbaijan Thalassemia Center and BGI Genomics sealed a Collaboration Agreement. The partnership aims to improve thalassemia screening in Azerbaijan through genetic technology.

Azerbaijan Thalassemia Center and BGI Genomics signing ceremony to seal a collaboration agreement

BGI'sThalassemia Gene Detection Kit (Combinatorial Probe-Anchor Synthesis Sequencing Method) obtained CE-IVDD approval in Europe and gained certifications in Thailand and Saudi Arabia.

This detection kit uses the combinatorial probe-anchor synthesis sequencing method, a next-generation sequencing (NGS) technology, to detect α-thalassemia and β thalassemia mutations. Peripheral blood samples will be used for genetic screening of the general population for α and β thalassemia mutations and diagnosis of patients and suspected patients with these mutations and abnormal hemoglobinopathy.

It has been estimated that 5-7 percent of the world's population carries a mutated gene affecting the production or function of the hemoglobin molecule. In high-prevalence regions of the world, hemoglobin disorders, such as thalassemia, constitute a serious medical and public health problem. These regions include the Mediterranean, the Middle Eastern and North African (MENA) region, Central Asia, the Indian subcontinent, and Southeast Asia.

About BGI Genomics 

BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. The company has pioneered thalassemia genetic testing services based on next-generation sequencing (NGS) technology since 2013. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.