What should people with Thalassemia gene pay attention to?

Thalassemia, also known as hemolytic anemia, is a disease related to an abnormality of hemoglobin - this is an important protein structure in red blood cells that carries oxygen. The cause of the disease is an abnormality in the gene that synthesizes the globin chain, a component of hemoglobin, which causes the abnormal structure of red blood cells. In people with thalassemia, due to abnormal red blood cells, they are more easily destroyed than normal, leading to anemia.
Thalassemia is an autosomal recessive genetic disease, so the rate of disease is equal between men and women. The disease has 4 different levels of disease manifestation, depending on the number of genes damaged, including:
Very severe: When the disease is infected, there is swelling of the fetus since it was in the womb, this case is often miscarriage before the baby is capable of giving birth. Or if born, the baby can die soon after birth due to severe anemia and fetal heart failure. Severe degree: Children are born with severe anemia very early, even when the child is less than 2 years old. If anemia is not detected and treated early, children will have severe anemia and have manifestations such as jaundice, hepatosplenomegaly, bone deformities, children have a special face due to frontal and occipital bones. In addition, protruding jawbone, flat nose also known as thalassemia face. In addition, children often have delays in physical, motor and mental development. People with severe anemia will need lifelong blood transfusion treatment, their life expectancy is lower than normal and often have many complications later on such as cardiovascular disease, diabetes ... Moderate: General Usually, anemia becomes apparent when the child is older than 6 years of age. Clinical symptoms may be mild or moderate anemia. Blood transfusions are sometimes needed, which rarely affects life expectancy. Mild degree, also known as thalassemia carrier: These are cases where only 1 disease gene is carried. These cases, although carrying a disease gene, are usually not clinically abnormal. Mild anemia is only detected based on blood tests during physical examination or anemia occurs only when accompanied by other medical conditions such as infection, trauma, surgery, pregnancy... Thus, if The fewer genes present, the milder the disease. This has important implications in prenatal screening and preventing the risk of severe anemia for the next generation.

Women or men with thalassemia can pass it on to their children. But when both husband and wife have mild disease or carrier of thalassemia gene, there is a 25% chance that the child will have severe disease at each birth, a 50% chance that the child will carry a disease gene, and a 25% chance that the child will be normal.
For women with Thalassemia, depending on the degree, it can be passed on to their children or it can directly affect the pregnancy process.
2.1 For women with severe and moderate Thalassemia For people with severe disease, blood transfusions are often required, and sometimes blood transfusions are also needed. So if a woman with these two types wants to have children, she needs to:
First, you need to have a pre-marital or pre-pregnancy check-up to check if your husband also carries the same Thalassemia gene or not. no, it is best to avoid the combination of two people carrying the disease gene. If both husband and wife carry the disease gene, there is a high chance of having a child with severe or very severe disease, which affects the health of the child and has a significant impact on the economy. Therefore, you can choose to adopt a child or receive assisted reproduction. For women who have Thalassemia and have had multiple blood transfusions, they should be checked for excess iron. If the excess iron in the body is too high, it is necessary to intervene to use chelation therapy before pregnancy, because it can greatly affect the development of the fetus in the early stages of pregnancy. You may be at higher risk for infections than others, so it's important to get all your vaccines, eat a healthy diet, and exercise regularly. When there are manifestations of iron excess, it is necessary to avoid foods with high iron content such as red meat, dark green vegetables. Sometimes having Thalassemia makes it harder for you to get pregnant. Then see a fertility specialist for examination and support. Folic acid should be started at least 3 months before pregnancy at a dose of 5mg per day, which is a higher dose than in women without medical conditions. When pregnant women have thalassemia, pregnancy should be managed at reputable obstetrics and gynecology facilities. Because, you can have many problems during pregnancy that need to be treated and managed. The risks for the mother such as anemia, iron overload, heart failure, liver failure, susceptibility to infections, gestational diabetes, thromboembolism... As for your unborn baby, there are risks. have hereditary Thalassemia disease, the risk of anemia, intrauterine growth retardation, stillbirth... Therefore, prenatal screening is necessary to early diagnose the fetuses with severe and very severe Thalassemia. 2.2 For women with thalassemia minor People with mild disease, or thalassemia carriers, usually do not need any treatment and do not affect life expectancy. However, they are still at risk of passing the disease gene on to the next generation. Therefore, it should be noted:
If you already know that you carry the gene for the disease, you should conduct a pre-marital or pre-pregnancy examination to check if your husband also carries the same Thalassemia gene. . If your husband is also a carrier of the disease, there is a 25% chance of having a child with severe disease. When both husband and wife carry the disease gene, you can choose from a number of methods such as:
Conceive naturally then perform prenatal genetic testing (methods such as amniocentesis, chorionic villus sampling or NIPS). ) to determine whether the fetus carries the Thalassemia gene. Termination of pregnancy early if the fetus has severe hemoglobin disease. Opt for in vitro fertilization (IVF) with preimplantation diagnostic testing prior to embryo transfer. Accordingly, only embryos that do not carry disease genes are selected and continue to transfer embryos afterwards. You have the option of getting pregnant through assisted reproduction through IUI - which is the injection of sperm into the uterus. This sperm is donated from a person who does not carry the disease gene. You can choose not to become pregnant and adopt a child. You may be at higher risk for infections than others, so it's important to get all your vaccinations, eat a nutritious diet, and exercise regularly. Besides, it is necessary to pay attention to folic acid supplementation before planning to become pregnant 3 months.
During pregnancy, even a woman with a mild form can cause anemia during pregnancy. Because the blood demand in pregnant women increases. Therefore, pregnant women may have anemia. Therefore, pregnant women with thalassemia need to be examined and monitored periodically at specialized facilities. Detect and take measures to deal with severe anemia during pregnancy.
Above are the things to keep in mind when women have Thalassemia. The most important thing is pre-marital counseling and examination to minimize the risk of having a baby with a serious illness. There are now many assisted reproductive methods that can help you. So when needed, go to reputable facilities for advice and support.
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.