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Thalassemia (congenital hemolysis) is the world's most common monogenic disorder. It is estimated that in the world, about 7% of the population currently carries the disease gene, over 330,000 children born annually suffer from the disease. In Vietnam, according to a report by the National Institute of Hematology and Blood Transfusion, all 63 provinces/cities and 54 ethnic groups have people carrying the disease gene. The numbers on the situation of congenital hemolytic disease in Vietnam are really alarming. It is estimated that about 14 million people carry the disease gene across the country (accounting for about 13%).
You should take an expanded thalassemia test for health screening today
According to statistics from the Vietnam Congenital Hemolysis Association, there are more than 20,000 patients who need treatment, of which 44% are children (<15 years old). Currently, more than 20,000 people with thalassemia need lifelong treatment and about 8,000 more children are born with thalassemia annually, of which about 2,000 are severely ill and about 800 cannot be born due to hydrops fetalis.
In addition, thalassemia is also a genetic disease with the highest incidence, a severe prognosis and requires large treatment costs. In fact, it also shows that the cost to prevent thalassemia is much smaller than the cost of treatment with outstanding efficiency.
Therefore, screening for thalassemia is necessary for everyone, especially those with a family history of the disease, which should be done right from the premarital stage. In case the couple unfortunately carries the disease gene, the doctor should advise on healthy childbirth measures to move towards ending the situation of the child being born with the disease and gradually reducing the inheritance rate of the disease gene in the community.
In order to help disease gene carriers be proactive in controlling and preventing thalassemia, especially severe thalassemia as well as building a healthy community, GENTIS has launched an expanded thalassemia test package to help detect gene mutations related to alpha thalassemia and beta thalassemia.
Screening Scope:
- Detection of the 5 most common mutations that cause alpha thalassemia: -αSEA; -α3.7; - α4.2; -CS; QS.
- Detection of more than 800 mutations located on the coding region of the HBB gene has been reported on databases related to beta thalassemia and hemoglobin disease, including 16 common mutations including 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, CD31. Other mutations include spot mutations, deletions, and short segment insertions (less than 4 nucleotides) in the coding region and neighboring introns (-10/+10 nucleotides from exons) of the HBB gene.
Note: A negative result does not exclude samples carrying duplication/deletion mutations or intels greater than 4 nucleotides.
At GENTIS, the expanded thalassemia test uses Illumina's NGS next-generation gene sequencing technology to enhance the specificity, sensitivity, and accuracy of the test. This is a technique that is considered the gold standard because it will help determine exactly whether you carry the alpha thalassemia or beta thalassemia gene. From there, it supports doctors in diagnosing and treating diseases effectively and providing reasonable reproductive advice.
In addition to the expanded thalassemia test package, GENTIS is currently providing 3 thalassemia test packages to help reduce the burden on many families, as well as society and have suitable options for the next generation to be healthy:
- β-Thalassemia Test Package: Find 16 β-Thalassemia mutations with high sensitivity and specificity using Sanger sequencing technology.
- Thalassemia 21 Mutation Test Package: Using a commercial kit with CE-IVD certification with high accuracy, 21 α and globin β mutations were detected in Vietnamese population.
- PGT-M Thalassemia Test: Pre-implantation test for Thalassemia.
In order to serve customers with advanced tests, GENTIS always invests in complete, modern facilities, ready for research as well as product improvement. Not only that, GENTIS is also proud to own a team of highly qualified, skilled staffs who are passionate and knowledgeable about technological and technical advances and constantly updating new knowledge of the industry in the world. In particular, GENTIS always has a Scientific Council with experts who are experienced researchers to "increasingly improve the physical and intellectual quality of Vietnamese people".
