So what is Thalassemia? Dr. Lai Thi Huong, Specialist I in Hematology and Blood Transfusion (Friendship Hospital), explains that Thalassemia, also known as congenital hemolytic anemia, is a disease related to gene mutations that produce globin.
This is a congenital genetic disorder that is usually inherited from both parents. If both parents carry at least one mutated version of the thalassemia gene, their children will have a high chance of developing the disease. It is also the disease with the highest rate of inheritance worldwide .
Meanwhile, Dr. Bach Quoc Khanh, President of the Vietnam Hematology and Blood Transfusion Association, stated that Thalassemia is dangerous because of its "recessive" nature. Many people are unaware that they carry the Thalassemia gene because they have no symptoms. However, if they marry someone who is also a carrier of the gene, there is a 25% risk of having children with Thalassemia. And if they do contract the disease, their children will suffer severe consequences from the inherited condition from their parents.
Of particular concern, all 63 provinces and 54 ethnic groups in Vietnam have individuals carrying the thalassemia gene. Many ethnic groups have thalassemia gene carriers with rates as high as 30-40%, while the Kinh ethnic group has a rate of 9.8%.
According to Dr. Lai Thi Huong, people with thalassemia not only face life-threatening dangers but also place a heavy financial burden on their families. However, thalassemia is a preventable disease.
To reduce the risk of children being born with thalassemia, couples should undergo screening tests and premarital counseling before pregnancy. If the test results indicate a high risk, couples can consider in-vitro fertilization (IVF) combined with embryo screening to select embryos that do not have thalassemia.
In 2020, Thalassemia was added to the list of diseases requiring mandatory prenatal screening.
Dr. Bach Quoc Khanh stated: "For decades, many countries around the world have successfully implemented thalassemia prevention programs. In practice, the investment cost for prevention is much lower than the cost of treatment, and the results are very effective."
In Vietnam, screening for thalassemia needs to be done earlier, even before marriage, and carriers of the disease gene should be advised on methods to have healthy children. This is a key step towards ending the situation of children being born with the disease and gradually reducing the rate of disease gene transmission in the community.”
The World Thalassemia Federation also affirms that thalassemia is a preventable disease. Therefore, experts recommend that each individual proactively visit medical facilities to undergo screening and testing for the possibility of carrying the thalassemia gene in order to "protect" their own children from the disease.
According to Dr. Lai Thi Huong, thalassemia can be detected early through blood tests and examination of blood cell morphology using a microscope – peripheral blood tests, and genetic testing to check for thalassemia genes. If there is a family history of the disease, other family members should undergo early screening.
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