Recently, the α and β thalassemia gene test kit (joint probe anchor polymerization sequencing method) of Huada Biotechnology (Wuhan) Co., Ltd., a wholly-owned subsidiary of Shenzhen Huada Gene Co., Ltd., has obtained the medical device registration certificate issued by the State Drug Administration, which is the first approved genetic test kit for thalassemia based on high-throughput sequencing technology in China, which can detect both deletion and non-deletion variants of α and β thalassemia at the same time. It fills the gap in the domestic β the detection of deletional gene types of thalassemia. The kit has high detection sensitivity and specificity, and flexible throughput configuration of multi-sequencing platforms to meet the diverse and personalized needs of clinical users.
Thalassemia is an inherited hemolytic anemia caused by a defect in the globin gene, and is a single-gene genetic disease with the widest distribution and the largest cumulative population in the world. Thalassemia is refractory but preventable, and can effectively reduce the birth of children with moderate and severe thalassemia through screening, diagnosis and intervention of thalassemia in people of childbearing age before marriage, pregnancy and prenatal.
As the leader of high-throughput sequencing technology to detect thalassemia, the new thalassemia gene detection technology developed by BGI on the high-throughput sequencing platform with independent intellectual property rights in China has the advantages of high accuracy, comprehensive detection, high throughput and low cost, which provides a new technical solution for the prevention and control of thalassemia in the world, which is conducive to better prevention and control of hemoglobinosis and helps the world to achieve no "poverty" as soon as possible!
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