GENTIS Introduces Expanded Thalassemia Testing Package at Lac Viet Friendship Hospital

The program was attended by Dr. Nguyen Ngoc Anh, Head of the IVF Department, and more than 15 nurses, doctors, and embryologists specializing in assisted reproduction at Lac Viet Friendship Hospital. Representing GENTIS were Nguyen Thi Hue, MSc.,MD. and Nguyen Thi Huyen, MSc.,MD., R&D Specialist and Genetic Consultant.

At the workshop, Dr. Hue (GENTIS) presented a detailed overview of thalassemia and the latest advancements in genetic testing. Dr. Hue explained that thalassemia is an autosomal recessive genetic disorder related to hemoglobin abnormalities. Specifically, it involves the partial or complete reduction in the production of globin chains, resulting in the defective synthesis of one or more globin chains. Thalassemia types are classified and named based on the affected globin chain, with alpha thalassemia and beta thalassemia being the most common clinical presentations.

Vietnam is one of the countries with the highest prevalence of thalassemia gene carriers in the world, with approximately 14 million individuals carrying the gene. People with the disease and carriers can be found in all provinces and cities, across all ethnic groups nationwide.

Notably, thalassemia has imposed a significant burden on the health, mental well-being, and finances of patients and their families. This disease is a social issue that severely impacts the economy, quality of life, and future generations.

However, thalassemia can be effectively prevented through simple and affordable genetic screening tests. Therefore, young people and those of reproductive age, regardless of their location or ethnicity, should undergo thalassemia genetic testing to prevent the birth of affected children.

Currently, thalassemia diagnosis can be performed at many hospitals and testing centers, including GENTIS. Dr. Hue shared, "At GENTIS, we utilize the most advanced testing methods to enhance the efficiency of our tests. Sample collection is performed by experienced technicians. If the test results indicate that the patient carries the thalassemia gene, GENTIS's team of genetic counselors will provide personalized advice to improve the quality of treatment."

Understanding the importance of thalassemia testing in controlling, treating, and preventing the disease for future generations, GENTIS has launched an expanded thalassemia testing package.

Specifically, this test can detect 5 mutations related to alpha thalassemia: -αSEA, -α3.7, -α4.2, CS, and QS, and over 800 mutations located in the coding region of the HBB gene that have been reported in databases related to beta thalassemia and hemoglobinopathies, including 16 common mutations such as CD41/42, CD43, IVS-II-654, -28, -29, CD71/72, CD26, CD17, CD14/15, CD27/28, CAP, Int, IVS-I-1(G-T), IVS-I-1(G-A), IVS-I-5, and CD31. Other mutations include point mutations, deletions, and short insertions (less than 4 nucleotides) in the coding region and nearby introns (-10/+10 nucleotides from the exon) of the HBB gene. A negative result does not exclude the possibility of the sample carrying additional deletions or insertions larger than 4 nucleotides.

With the goal of increasing the success rate of infertility treatment and helping couples having healthy babies, GENTIS has applied the latest technologies and personalized treatment protocols to achieve optimal outcomes. Accordingly, PGT-M-Thalassemia testing at GENTIS allows doctors to identify the genetic information of embryos and select embryos that do not carry the disease before embryo transfer. This technique helps prevent the transmission of genetic diseases and reduces the rate of pregnancy termination due to genetic disorders, including thalassemia.

Following Dr. Hue's presentation, the hospital's physicians engaged in a lively question-and-answer session related to thalassemia testing. Dr. Ngoc Anh expressed particular interest in the expanded thalassemia testing package. In response to Dr. Nguyen's inquiry, Dr. Huyen (GENTIS) explained that at GENTIS, the expanded thalassemia testing package is performed using whole-exon amplification of the HBB gene and sequencing on a US-based NGS system, achieving an accuracy of up to 99%. Furthermore, GENTIS has a team of genetic counselors who provide pre-, during, and post-test counseling to support clinicians in developing the best monitoring and treatment strategies for patients.

Hopefully after this workshop, GENTIS and Lac Viet Friendship Hospital will further develop their collaboration for mutual benefits.