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Thalassemia: A Silent Disease with Serious Consequences
Discussing the current situation, Professor Nguyen Dinh Tao (Chairman of the Hanoi Association for Reproductive Support) shared that approximately 13% of Vietnam's population—equivalent to over 14 million people—are carriers of the Thalassemia gene without knowing it. Each year, around 8,000 children are born with the disease in Vietnam, including 2,000 severe cases and approximately 800 newborn deaths.
Children with severe Thalassemia are dependent on hospitals, blood transfusions, and lifelong treatment. This not only impacts the child’s quality of life but also places a significant financial and emotional burden on the entire family. The estimated cost of treating a Thalassemia patient over their lifetime can reach 2 to 3 billion VND—a substantial amount for most families in Vietnam.
Early Prevention – The Key to a Healthy Generation
According to Dr. Bui Thi Phuong Hoa (Head of the Department of Scientific Research and Training – Hanoi Hospital of Andrology and Infertility), Thalassemia is no longer something to fear if detected and prevented early. With significant progress in genetic medicine, Vietnam now meets international standards in gene screening and testing. Several national programs have been implemented to screen for this condition, especially targeting individuals preparing for marriage and women in early pregnancy.
A simple complete blood count (CBC) test can help detect risk factors through indicators such as MCV and MCH. If these values are low, patients will be recommended for more advanced genetic tests, including PCR, Sanger, or, notably, next-generation sequencing (NGS)—a cutting-edge method currently applied effectively at GENTIS. As a pioneer in the field of genetic testing in Vietnam, GENTIS uses NGS to minimize missed mutations and deliver high accuracy and safety for patients.
Comprehensive Reproductive Solutions for Carrier Couples
If both partners carry the Thalassemia gene, there is a 25% chance that their child will inherit the disease. However, experts advise that couples proactively seek modern medical solutions. One of the most effective methods today is in vitro fertilization (IVF) combined with PGT-M embryo genetic testing, a service currently offered by GENTIS. This approach allows doctors to select healthy embryos free from the Thalassemia gene to be implanted into the mother’s uterus, ensuring the birth of a healthy baby.
In Vietnam, GENTIS leads the way in implementing PGT-M embryo genetic testing. According to Dr. Pham Dinh Minh (R&D Director at GENTIS), with nearly 2,000 IVF cycles and over 3,000 embryos tested for Thalassemia, GENTIS has helped hundreds of families realize their dream of having children without genetic disorders. A major advancement now applied by GENTIS is the One PGT-M solution. This modern technique allows for simultaneous detection of Thalassemia mutations and chromosomal abnormalities (PGT-A/SR) using a single embryo biopsy sample. The method reduces time, optimizes costs, and increases the success rate of treatment.
For families not yet ready for IVF, prenatal diagnostic testing can still be performed to detect genetic abnormalities early and plan appropriate pregnancy care—helping to protect the health of both mother and baby.
Proactive genetic testing and screening should ideally be performed before marriage or early in pregnancy. If a blood test reveals low MCH or MCV levels, even in the absence of family medical history, further genetic testing is strongly recommended. Even when one partner tests negative, it is still essential to test the other partner to ensure a clear genetic profile.
GENTIS – Supporting Families on the Journey to Healthy Children
With a mission to enhance both the physical and mental health of the Vietnamese people, GENTIS continuously innovates and expands its specialized genetic testing services tailored to Vietnamese genetic characteristics. Currently, GENTIS offers two standard Thalassemia screening packages:
- The Basic Package, covering 5 common Alpha and 16 common Beta mutations.
- The Comprehensive One PGT-M Package, detecting 8 additional Alpha and over 800 Beta mutations—providing a deeper and more thorough gene analysis.
In addition, GENTIS offers advanced genetic counseling services, accompanying clients from initial testing through fertility consultations to embryo selection and transfer. With a team of leading experts and state-of-the-art laboratories, GENTIS has become a trusted destination for thousands of Vietnamese families on their journey to securing a healthy future for the next generation.
Thalassemia can be entirely prevented if detected and addressed in time. With the support of advanced testing technologies and dedicated units like GENTIS, every family can confidently look forward to welcoming a healthy baby—free from genetic disease.
