What is thalassemia? Thalassemia, also known as thalassemia, is a group of genetic disorders. The pathogenesis of thalassemia is the decrease or absence of the synthesis of hemoglobin chain, which leads to abnormal structure of hemoglobin, and the deformability of red blood cells containing abnormal hemoglobin is reduced, and the life span is shortened, which can be destroyed by the liver and spleen of human body in advance, leading to anemia and even abnormal development. 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. How to diagnose According to the clinical characteristics and laboratory tests, combined with positive family history, the diagnosis can generally be made. Genetic diagnosis can be made when conditions are available. For rare types and complexes due to overlapping of various types are very complicated, with different clinical manifestations, and cannot be diagnosed based on clinical features and routine laboratory hematological tests alone. Moreover, due to differences in the level of gene regulation, patients with the same mutation type do not necessarily have the same clinical manifestations. Hemoglobin electrophoresis examination is necessary for the diagnosis of the disease, but hematological examination after transfusion therapy can differ from the actual results. Therefore, genetic and molecular biology tests are performed to finally confirm the diagnosis. Genetic tests can identify pure heterozygotes, heterozygotes and double heterozygotes. How can we prevent thalassemia from occurring? In general, if two people with the same type of thalassemia are married, there is a chance of having a person with thalassemia major. To effectively prevent the disease, a peptide chain test and genetic analysis are required. If it is confirmed that both the spouse and the child are of beta-hemoglobinopathy or thalassemia major, there is a one in four chance that the child will be completely normal, one in two chance that the child will be of thalassemia major, and one in four chance that the child will be of thalassemia medium or major. In view of the lack of a cure for this disease and the poor clinical prognosis for moderate and severe cases, doctors should make medical recommendations to patients with a positive family history or to perform premarital testing and prenatal genetic diagnosis of the fetus in order to avoid the occurrence of affected children in the next generation.