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When you have Thalassemia you may develop mild to severe anemia or may not show it if you are a carrier. Therefore, clinical manifestations cannot help you know if you have Thalassemia or not. Therefore, to know if you have the disease, you need to conduct paraclinical tests. So what test to know Thalassemia?
1. Why test for Thalassemia?
Thalassemia, also known as hemolytic anemia, mediterranean anemia. This is an autosomal recessive genetic disease. The disease is caused by an abnormality in the gene that synthesizes the globin chain of hemoglobin. Thalassemia is divided into two types including alpha-thalassemia (due to a decrease or inability to synthesize alpha chains) and beta-thalassemia (due to a decrease or inability to synthesize beta chains).
Depending on the number of disease genes, people with thalassemia major show anemia at different levels, from mild to very severe.
Testing and early diagnosis of Thalassemia is very important in early treatment and prevention of disease in later generations. Here are some reasons why we need diagnostic testing for thalassemia:
Children with moderate and severe disease can develop early hemophilia, but there are many different causes of anemia. so sometimes cause confusion and wrong treatment for children. Diagnostic testing helps children to access early treatment and minimize the risk of complications. Helps prevent Thalassemia: Because this is a disease with known causes and pathogenesis, it can be effectively prevented. Because our country currently has more than 20,000 people with severe disease requiring lifelong treatment and every year about 8,000 more children are born with thalassemia. The average cost of treatment for a severely ill patient from birth to the age of 30 is about 3 billion VND. Children born with the disease cause many health, mental and material burdens for the patient and their families. Therefore, early detection of the disease to prevent risks for the baby after birth is very important. When the disease is detected, carriers of the disease need to be consulted and manage genetic resources to avoid having children with severe disease. Avoid combining two gene carriers with pre-marital screening. When two people carrying the same thalassemia gene are married, it is necessary to consult a specialist before becoming pregnant and take prenatal diagnostic measures to avoid giving birth to babies with severe disease. Thus, although Thalassemia is a serious problem of the whole society, affecting the economy, life and future of the race. However, congenital hemolytic disease can be actively prevented in later generations by a relatively simple genetic screening test.
2. Diagnostic tests for Thalassemia
Tests to help us diagnose the disease include:
2.1. Complete blood count This is the first priority test when doctors order to help diagnose anemia. For people with Thalassemia, the blood count may show changes that include:
Red blood cell count: Usually decreased or sometimes when the red blood cell count is completely normal. Hemoglobin (Hemoglobin): This is a criterion for diagnosing anemia. Patients with thalassemia have a reduced hemoglobin index, with carriers of the gene having little or no reduction. Other indicators of red blood cells: decreased MCV (mean red blood cell mass) expressed as small red blood cells, decreased MCH (mean red blood cell count) expressed hypochromic red blood cells, and MCHC (blood concentration) mean erythrocyte pigment) decreased. In thalassemia, the patient is hypochromic and microcytic anemia. Peripheral reticulocytosis is increased: Due to the responsiveness of the bone marrow to anemia. 2.2. Blood biochemistry Total bilirubin is often increased, mainly indirectly. Serum iron increased, ferritin increased. But with gene carriers, these indicators usually have little change. 2.3. Hemoglobin electrophoresis With blood chemistry and complete blood count tests can help guide the diagnosis of the disease. When doctors suspect that they will continue to order this test to diagnose the disease or help screen people who carry the disease gene but do not clearly show anemia. This test works:
This test helps determine the percentage of different types of hemoglobin in the blood. From there, the condition can be diagnosed. In normal healthy adults, the value of a normal hemoglobin electrophoresis result is: Hb A: 95% - 98%; Hb A2: 2% - 3%; Hb F: 0.8% - 2%; HbS: 0%; Hb C: 0%. For infants with normal values slightly different from adults: Hb A: 20 - 40%; Hb A2: 0.03 - 0.6%; HbF: 60 - 80%. When you have Thalassemia: Abnormal hemoglobin appears. An increase in HbF and an elevated HbA2 is diagnostic of β - thalassemia. The case of HbH increase is α - thalassemia increased HbH. In addition, this test helps monitor the effectiveness of treatment in people with abnormal hemoglobin in general. Helps to support the determination of heritability to the next generation in couples who want to have children.
2.4. Gene testing A gene test is a test that helps diagnose a disease. The test detects genetic abnormalities and disease gene mutations in Thalassemia gene carriers.
3. Some things to know when testing to diagnose Thalassemia
When conducting diagnostic tests for Thalassemia, you do not need to fast and can eat and drink normally before taking blood for testing. This screening should be done when there is a family member who has the disease or carries the Thalassemia gene. The time of testing can be done as soon as there are symptoms of anemia such as fatigue, dizziness, yellow skin, hepatosplenomegaly... or before marriage or childbirth. Screening tests should be carried out in specialized medical facilities. To receive the most accurate results and consult when determining the disease. Once a genetic carrier has been identified, counseling about the genetics of the disease should be sought and should not be married to a person who also has the disease or carries the disease gene. Thalassemia diagnostic tests are simple and inexpensive tests. Doing this helps limit the birth of a child with serious illness that affects the economy, health and spirit of family members. Therefore, every couple before having children should be screened for the risk of genetic diseases for their children.
Realizing the importance as well as the level of danger that congenital hemolytic disease causes to self, family and society, Vinmec International General Hospital has been implementing a pre-paid health check-up package. marriage for subjects who are about to get married, pregnant, and perform prenatal diagnosis with suspected cases of pregnant women and fetuses having 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 is an effective way to consult and treat patients.
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