Screening and prevention of thalassemia
(Baonghean.vn) - Thalassemia is a genetic disease that has long-term effects on the patient's health and the quality of the population. In Nghe An, despite regular propaganda, the number of people with the disease is still quite high, especially in mountainous districts.
The arduous journey
Only 28 years old, Ms. Ngan Thi Huong in Xen 1 village, Chau Thang commune, Quy Chau district looks sickly and has yellow skin. Meeting her at a program to give gifts to poor students, the mother could not hide her sadness because both she and her 3-year-old daughter suffer from thalassemia. The disease is difficult to cure and persists from year to year, seriously affecting her and her daughter's health. Moreover, the family's finances are also exhausted because every 2 months, she and her daughter have to go to the Provincial Hematology and Blood Transfusion Center for treatment.
Thalassemiais not a rare disease. However, cases where both mother and child suffer like Ms. Huong do are rare. Ms. Huong said that she got married at the age of 25 and at that time she already had this disease. However, due to lack of knowledge and subjectivity, the couple got married without going for a premarital health check.
During the pregnancy, both of us did not go for check-ups or screening, so we did not receive advice or support from the medical team. “My health is poor, so I cannot do any heavy work. My husband's job is also unstable, he does whatever he is hired to do, and his income is not much. Our family is poor. Now we do not dare to have another child for fear of another person getting sick,” Ms. Ngan Thi Huong shared.
For many years now, Luong Viet Anh in Tong Chai village, Chi Khe commune, Con Cuong district has become a familiar patient at the Provincial Hematology and Blood Transfusion Center.
The child's mother, Ms. Luong Thi Diep, said that it was not until she was 5 years old that she started to see a doctor when she saw many unusual symptoms compared to her peers, such as slow growth in height and weight, pale skin, pale lips, yellow eyes, etc. When she took her child to the Provincial Hematology and Blood Transfusion Center for a check-up, she found out that all the test results were lower than normal.
Luong Viet Anh is the second child of Ms. Diep's family. Because her parents' health is normal and her first child was healthy, when she was pregnant with her second child, Ms. Diep only went for a check-up and an ultrasound. Screening was quite strange for her family because she said that in her hometown, not many people knew about checking the health of the fetus or doing tests and examinations to determine abnormalities in children.
Later, when her child got sick, she went to the doctor for a check-up and found out that congenital hemolytic anemia is sometimes not due to consanguineous marriage but has many other causes. In her family's case, the doctor determined that the father or mother carried the Thalassemia gene and the carrier can also pass the disease gene to the next generation or even give birth to children with Thalassemia.
Currently, due to having suffered from the disease for many years, although Ms. Diep's child has learned well, it is difficult for her to study normally because every 2 months, the child has to go to the Provincial Hematology and Blood Transfusion Center for treatment for 7-10 days. The cost of each treatment is also up to nearly 10 million VND. Luckily, the child has insurance to cover the cost, so it is somewhat easier.
Do not be subjective with screening work
Thalassemia is a common genetic disease and about 7% of people in the world carry the Thalassemia gene. It is worth mentioning that the serious consequences of the disease not only affect the patient but also the family and society. More dangerously, it reduces the development of the race.
At Nghe An Hematology and Blood Transfusion Center, there are currently about 600 patients being managed, including over 100 pediatric patients with congenital hemolytic anemia. Most of these patients are ethnic minorities from mountainous districts such as Quy Chau, Ky Son, Tuong Duong, and Quy Hop.
Doctor Nguyen Nhu Thinh - Deputy Head of the Department of General Hematology (Nghe An Hematology and Blood Transfusion Center) said: One of the cases we discovered earliest was congenital hemolytic anemia when the children were about 6 months old. If the age of onset is early, the level of anemia is severe, the disease will be more severe.
In addition to causing anemia, severe thalassemia also causes anemia and iron deposition in the body. Therefore, if children with the disease are not treated or are not treated adequately, they often have weak, stunted bodies, pale skin, deformed head and face, and enlarged liver and spleen. Usually, patients need to be treated with blood transfusions, every 2-4 weeks. After each blood transfusion, patients need to take iron-chelating drugs. There is currently no cure for the disease, mainly lifelong symptomatic treatment.
Thalassemia leaves long-term consequences. However, according to Dr. Nguyen Nhu Thinh, the only way to cure the disease is by stem cell transplantation. However, this method requires many strict conditions, so very few patients can receive stem cell transplantation.
Dr. Nguyen Nhu Thinh added: According to the regulations of the Ministry of Health, pregnant women must be screened for thalassemia. Screening can be done in steps, including slow testing to see if the husband and wife are likely to have the disease. In addition, if the parents have a first child with this disease, prenatal testing should be done in the next pregnancy. The mother will have amniocentesis when the fetus is 16 to 29 weeks old to do genetic testing to determine whether the fetus carries the disease gene from the parents or not to provide timely advice and counseling.
In high-risk cases, termination of pregnancy may be an option to avoid the birth of a child with this condition.
According to research, normally when both parents carry the Thalassemia gene, the probability of having a child with the disease is actually 25-50%. Therefore, by analyzing the parents' genes, doctors can predict the possibility of the next baby having a severe or mild form of the disease gene.
Currently, through premarital screening with modern methods, genetic diseases from parents to children can be effectively prevented up to 80-95% by measures such as: Premarital health check-up, prenatal screening.
Along with the pressure on treatment costs, thalassemia has been causing very serious consequences to the race, causing long-term consequences for the lives of patients and the community.
To raise awareness of this disease, every year, Nghe An Department of Population organizes the World Thalassemia Day Communication Program. Through this, it helps people understand more about thalassemia. At the same time, it enhances the responsibility of all levels, sectors, especially the medical staff to understand and be more responsible in repelling this disease.
“Currently, the number of people with Thalassemia is very large, the number of patients who have not been detected is quite large. Meanwhile, there has not been a specific assessment of the current situation of patients with congenital hemolytic disease and many people do not understand this disease clearly.
Therefore, promoting communication work, helping people identify the causes, detect early, and prevent diseases is considered a solution of great significance in the work of caring for and protecting children's health, and improving population quality.
