Screening and prevention of thalassemia
(Baonghean.vn) - Thalassemia is a genetic disease that has long-term effects on the health of patients and the quality of the population. In Nghe An, despite regular awareness campaigns, the number of people suffering from the disease remains quite high, especially in mountainous districts.
A difficult journey
At only 28 years old, Ms. Ngan Thi Huong from Xen 1 village, Chau Thang commune, Quy Chau district, looks frail and has a yellowish complexion. Meeting her at a gift-giving program for poor students, this mother couldn't hide her sadness as both she and her 3-year-old daughter suffer from thalassemia. The difficult-to-treat and persistent disease has severely impacted her and her daughter's health year after year. Furthermore, the family's finances are depleted because every two months, she and her daughter have to go to the Provincial Hematology and Blood Transfusion Center for treatment.
ThalassemiaIt's not an uncommon disease. However, cases like Ms. Huong's, where both mother and daughter are affected, are rare. Ms. Huong said that she got married at the age of 25 and already had the disease at that time. However, due to a lack of knowledge and complacency, she and her husband got married without undergoing pre-marital health checkups.
During her pregnancy, neither of them went for check-ups or screenings, so they didn't receive advice or support from medical professionals. "I'm in poor health and can't do any strenuous work. My husband's job is also unstable; he does whatever work he can find, and his income is meager. Our family is classified as a poor household. Now we don't dare have another child because we're afraid another person will get sick," shared Ms. Ngan Thi Huong.
For many years now, Luong Viet Anh, from Tong Chai village, Chi Khe commune, Con Cuong district, has become a familiar patient at the Provincial Hematology and Blood Transfusion Center.
Her mother, Ms. Luong Thi Diep, recounted that her daughter didn't start seeing a doctor until she was 5 years old, when she noticed many unusual symptoms compared to her peers, such as slow growth in height and weight, frequently pale skin, pale lips, and yellowing of the eyes. When she took her daughter to the Provincial Hematology and Blood Transfusion Center for examination, she discovered that all her test results were lower than normal.
Luong Viet Anh is the second child of Ms. Diep's family. Because her parents were healthy and their first child was born healthy, Ms. Diep only went for check-ups and ultrasounds during her second pregnancy. Screening was quite unfamiliar to her family because she said that in her hometown, not many people knew about prenatal health checks or tests to identify birth defects in children.
Later, when her child fell ill and she took him to the doctor for a check-up, she learned 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 either parent carried the thalassemia gene, and the carrier could pass the gene on to their children or even give birth to children with thalassemia.
Due to a long-standing illness, although her child learns quite well, Ms. Diep's child finds it difficult to study normally because every two months, the child has to go to the Provincial Hematology and Blood Transfusion Center for treatment for 7-10 days. Each treatment costs nearly 10 million VND. Fortunately, the child has insurance coverage, which helps to alleviate some of the burden.
Do not be complacent about the screening process.
Thalassemia is a common genetic disease, with approximately 7% of the world's population carrying the thalassemia gene. Significantly, the severe consequences of this disease affect not only the affected individual but also their family and society. More dangerously, it impairs the development of future generations.
At the Nghe An Center for Hematology and Blood Transfusion, approximately 600 patients are currently being managed, with over 100 pediatric patients with thalassemia receiving treatment at times. The majority of these patients are ethnic minorities from mountainous districts such as Quy Chau, Ky Son, Tuong Duong, and Quy Hop.
Dr. Nguyen Nhu Thinh – Deputy Head of the General Hematology Department (Nghe An Hematology and Blood Transfusion Center) said: "One of the cases we discovered with congenital hemolytic anemia at the earliest age was when the children were about 6 months old. If the disease is detected early and the anemia is severe, the children's condition will be more serious."
Besides causing anemia, severe congenital hemolytic anemia also causes iron overload in the body. Therefore, children with the disease, if left untreated or inadequately treated, often have a weak constitution, are stunted, have pale skin, deformed heads and faces, and enlarged liver and spleen. Typically, patients need blood transfusions every 2-4 weeks. After each transfusion, patients need to take medication to remove excess iron. Currently, there is no cure for the disease; treatment mainly focuses on managing symptoms throughout life.
Thalassemia leaves behind long-term consequences. However, according to Dr. Nguyen Nhu Thinh, the only way to cure the disease is through stem cell transplantation. This method, however, requires very strict conditions, so very few patients are eligible for stem cell transplantation.
Dr. Nguyen Nhu Thinh further shared: According to regulations of the Ministry of Health, pregnant women must be screened for thalassemia. Screening can be done in several steps, including delayed testing to see if the wife and husband may have the disease. In addition, if the parents' first child has this disease, prenatal testing should be done in the next pregnancy. The mother will undergo amniocentesis between 16 and 29 weeks of gestation for genetic testing to determine if the fetus carries the disease gene from the parents, so that timely advice and counseling can be provided.
In high-risk cases, pregnancy termination may be an option to avoid giving birth to individuals with these conditions.
Studies show that when both parents carry the thalassemia gene, the probability of having a child with the disease is typically 25-50%. Therefore, by analyzing the parents' genes, doctors can predict the likelihood of their next child inheriting a severe or mild form of the disease.
Currently, through pre-marital screening using modern methods, genetic diseases passed from parents to children can be effectively prevented in 80-95% of cases through measures such as: pre-marital health check-ups and prenatal screening.
In addition to putting pressure on treatment costs, thalassemia has been causing very serious consequences for future generations, with long-term repercussions for the lives of patients and the community.
To raise awareness about this disease, the Nghe An Population Department organizes a World Thalassemia Day communication program every year. Through this, people gain a better understanding of thalassemia. At the same time, it enhances the responsibility of all levels and sectors, especially healthcare workers, to understand and be more responsible in combating this disease.
"Currently, there are many people with thalassemia, and a significant number of patients remain undiagnosed. Meanwhile, there has been no specific assessment of the situation of patients with congenital hemolytic anemia, and many people do not fully understand this disease."
Therefore, strengthening communication efforts to help people identify the causes, detect diseases early, and prevent them is considered a significant solution in the care and protection of children's health and improving the quality of the population.
