Hybribio Ltd (SHE: 300639), a Guangdong-based provider of nucleic acid molecular diagnostic products, has announced that it has received marketing approval from the National Medical Products Administration (NMPA) for its α-thalassemia genotyping detection kit. The kit, which utilizes PCR and flow cytometry technology, is designed for qualitative detection of 10 mutations in the genomic DNA of human venous whole blood samples, including five deletions and two triplets.
Thalassemia is an autosomal recessive inherited disease, categorized as a group of monogenetic hemolytic diseases caused by mutations in the globin gene, leading to a decrease or complete inability to synthesize the globin peptide chain. The disease can be further divided into alpha thalassemia, beta thalassemia, gamma thalassemia, delta thalassemia, etc., with the former two being most commonly encountered in clinical practice. Alpha thalassemia can be subclassified based on the clinical phenotype into stationary type, mild (standard type), intermediate type (HbH disease), and severe type (HbBart’s fetal edema syndrome). Patients with different subtypes of thalassemia exhibit significant differences in clinical phenotypes, with varying onset times and severity of anemia, and varying dependence on blood transfusion treatment.
The newly approved product covers over 98% of alpha thalassemia variant types prevalent in the Chinese population and is capable of qualitatively detecting 10 alpha thalassemia mutations in sample genomic DNA. Notably, the Filipino type (FIL/), 3.7 triad (alpha alpha alpha anti3.7), and 4.2 triad (alpha alpha anti4.2) are confirmed loci that are now detectable in China for the first time.- Flcube.com
