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Posted by Doctor Pediatrician - Pediatric Center - Vinmec Times City International Hospital
Thalassemia (congenital hemolysis) is a dangerous disease and leaves many complications for sufferers as well as burdens for families. The disease is preventable through screening, diagnostic tests, and genetic diagnosis.
1. Thalassemia prevention by screening gene carriers
Thalassemia (congenital hemolysis) is a dangerous disease and occurs in many countries around the world, including Vietnam. β Thalassemia carrier screening should be linked to the national prevention program from an early age, but is important at pre-marital and pre-pregnancy age. Some subjects need to be screened for congenital hemolytic disease as follows:
People who are related to the carrier of the disease gene. Some ethnic groups have a high incidence of the disease. Vietnam in the north has Muong, Tay, Nung ethnic groups and some ethnic minorities in the south. People who are married by blood are more susceptible to genetic diseases such as Thalassemia.
2. Test methods to diagnose Thalassemia
The choice for at-risk couples is prenatal diagnosis. Accordingly, if both husband and wife carry the disease gene during pregnancy, prenatal diagnosis can be performed to terminate the pregnancy if the fetus is seriously ill. Thalassemia test in pregnancy has 3 types of tests for the fetus:
Amniotic fluid test: Do the 15th week (18-22) of pregnancy. Under the ultrasound screen, through the abdominal wall into the uterus, 20ml of amniotic fluid is taken for testing. Placental blood test: Observe under the ultrasound screen, insert a fine needle through the abdominal wall into the fetal umbilical cord to take 2-3 ml of fetal blood. However, this method can fail due to small gestational age, so it has fewer limitations compared to other methods. Placental chord biopsy: Spinal cord biopsy is done earlier than amniocentesis and can be done at 10-11 weeks of pregnancy.
Veggies or cord blood will be tested for DNA to identify or rule out genetic mutations of the parents. If the pregnancy test is seriously ill, the family can terminate the pregnancy.
3. Some other diagnostic methods for Thalassemia
In addition to the above methods, there is another method to diagnose hemolytic anemia, which is genetic diagnosis before conception. This method uses biotechnology to select normal eggs of a woman carrying the disease gene, fertilize it in vitro, and then put it into the uterus. This method is easily accepted in the community, where termination of pregnancy is prohibited, and will be widely adopted when the techniques become cheaper.
Thalassemia is a disease with a frequency of occurrence in many countries around the world, including Vietnam. The disease leaves dangerous complications for sufferers (patients may have to have blood transfusions and iron chelation for life and often have a short life expectancy). Not only that, the disease also leaves a lot of burden on the family and society, so prevention is essential. Accordingly, this issue needs the attention of the government, public health education about marriage, and the close cooperation of the three specialties of Pediatrics, Obstetrics and Gynecology, and Genetic Engineering.
Realizing the importance and danger of congenital hemolytic disease, now Vinmec International General Hospital has been implementing a pre-marital health checkup package for those who are about to get married, pregnancy and perform prenatal diagnosis in cases where pregnant women and fetuses are suspected to have genetic abnormalities or congenital hemolytic disease. Accordingly, the process of performing medical examination and diagnosis at Vinmec is carried out methodically by a team of highly skilled medical doctors, modern machinery system, thus giving accurate results, making a significant contribution. in disease diagnosis and staging. From there, there are directions for effective consultation and treatment for patients.
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