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NGS Blood Test Qualitatively Detects Thalassemia Mutations

By LabMedica International staff writers
Posted on 05 Sep 2022
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Image: Preventing and treating thalassemia with genomics (Photo courtesy of BGI Genomics)
Image: Preventing and treating thalassemia with genomics (Photo courtesy of BGI Genomics)

Thalassemia is an inherited blood disorder caused by an abnormal hemoglobin molecule, which inhibits the body’s ability to produce hemoglobin or red blood cells. Thalassemia occurs in approximately 4.4 out of every 10,000 live births throughout the world. The impact ranges from mild to severe, and can be life-threatening. It has been estimated that 5-7% of the world's population carries a mutated gene affecting the production or function of the hemoglobin molecule. Genomics has helped doctors better understand the abnormal hemoglobin molecule causing thalassemia and other hemoglobinopathies, thereby enabling more targeted treatments for patients. Now, a detection kit based on the combinatorial probe-anchor synthesis sequencing method, a next-generation sequencing (NGS) technology, can qualitatively detect α-thalassemia and β thalassemia mutations.

BGI Genomics’ (Shenzhen, China) Thalassemia Gene Detection Kit (Combinatorial Probe-Anchor Synthesis Sequencing Method) has recently obtained CE-IVDD approval, expanding the availability of genetic testing in the screening, diagnosis and treatment of thalassemia. Peripheral blood samples can be used for genetic screening of the general population for α and/or β thalassemia mutations, and diagnosis of patients and suspected patients with these mutations as well as abnormal hemoglobinopathy. 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.

"Screening for thalassemia through genetic testing is vital so that carriers and at-risk couples may be informed about their risk and the options for reducing it," said Jingjing Xiao, BGI Genomics Senior Product Manager. "These genetic tests are also the gold standard for the diagnosis of thalassemia."

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