Thalassemia, also known as thalassemia, is a group of genetic disorders. The pathogenesis of the disease is the reduction or deletion of the hemoglobin chain that synthesizes hemoglobin, resulting in abnormal structure of hemoglobin. The red blood cells containing abnormal hemoglobin have reduced deformability and shortened life span, and can be destroyed by the liver and spleen in advance, resulting in anemia and even abnormal development. Hemoglobin is composed of hemoglobin as well as two a-chains and two beta-chains, as follows: if the synthesis of a-luciferin chain is reduced or absent, it can lead to a-marine anemia, and the synthesis of beta-luciferin chain is reduced or absent, it can lead to beta-marine anemia. The disease is common in Mediterranean coastal countries and Southeast Asian countries, and has been reported in all provinces south of the Yangtze River in China, with a higher incidence in Guangdong, Guangxi, Hainan and other provinces, and is less common in the north. What are the manifestations of thalassemia? Beta-thalassemia is more common than a-thalassemia. The main manifestations of thalassemia are varying degrees of anemia. Patients who are mild or heterozygous (gene carriers) may not have any anemia-related manifestations such as fatigue, dizziness, or pale skin, etc. These carriers can work and live normally, but can be detected to carry the thalassemia-related gene during physical examination. The typical thalassemia patient has anemia from early age after birth and it gradually worsens, often with xanthogranuloma, splenomegaly, developmental disorders and mental retardation. There are often skeletal and other deformities, and typical cases show special facial features such as sunken nasal bridge, widened eyebrow spacing, and prominent cheekbones. Typical and severe cases often lose their young lives in childhood due to severe anemia and heart and liver complications. How can the presence of thalassemia be determined? The test for thalassemia is very simple, starting with a routine blood test to see if the average volume of red blood cells, the average hemoglobin content and the average hemoglobin concentration are lower than normal, followed by hemoglobin electrophoresis to observe the ratio of hemoglobin and the presence of abnormal hemoglobin (e.g. HbF is often elevated in beta-thalassemia), and also by genetic screening (e.g. RT-PCR method) to detect The presence or absence of the thalassemia gene, etc. In addition, pregnant women can undergo prenatal screening to determine whether their fetus has thalassemia. What treatments are available for thalassemia? There is no specific treatment for thalassemia, and those with hemoglobin above 10 g/L generally do not require special treatment. Patients with significant anemia, especially those with hemoglobin below 60-80g/L, usually rely on blood transfusions. Patients with long-term transfusions often require iron-removal drugs due to the increased iron load in the body. Currently, the only way to cure thalassemia is hematopoietic stem cell transplantation, but transplantation is costly and risky. In addition, some therapeutic measures such as gene therapy (e.g. introduction of the missing a- or beta-gene into hematopoietic stem cells using different vectors to make the hematopoietic cells synthesize normal hemoglobin) are still in the experimental stage. So, how can we prevent thalassemia from occurring? ”As the saying goes, prevention is better than cure, and nip the disease in the bud is the best measure. By using the following beta-thalassemia genetic pattern chart, we can clearly see how to prevent the occurrence of thalassemia: thalassemia gene carriers or thalassemia minor patients usually have no obvious symptoms, but if both couples have thalassemia gene, i.e. both are thalassemia minor, 25% of their children will be thalassemia major and 50% of them will be If only one partner is a thalassaemia minor or a gene carrier, 50% of their children will be normal, 25% will be thalassaemia minor (gene carrier) and there will be no thalassaemia major children. Some information shows that in the southern provinces of Guangxi, Guangdong and Hainan, thalassemia gene carriers are up to 20% or more. Since there is no legal pre-marital examination as a “barrier”, many young people get a marriage certificate and get married, which simplifies a lot of cumbersome procedures in terms of marriage, but unbeknownst to them, it has also laid a lot of hidden dangers, and the incidence of thalassemia in the two regions is increasing year by year. If the couple spends a few hundred dollars at most for a medical check-up before the marriage, they can clarify whether they have thalassemia and other diseases, so as to lay the foundation for the post-marital fertility plan and eugenics. However, many young people may not do so, and the consequence is to give birth to a child with thalassemia, a consequence that cannot be solved by a few hundred dollars, but will bring a series of family embarrassment and countless medical expenses, which may also overshadow a happy family. Therefore, young friends, in order to ensure the sublimation of your love, the happiness and fulfillment of your family after marriage, and the birth of a healthy baby, you’d better have a premarital examination.