In outpatient clinics, we often encounter patients who are found to have thalassemia, and many of them feel confused, and often ask: Doctor, what is thalassemia? Will thalassemia be passed on to the next generation? How great is the risk of inheritance of thalassemia? So, today, let’s talk about thalassemia together. 1.How to correctly understand thalassemia Thalassemia (thalassemia for short), a hereditary blood disease, has the highest incidence in the provinces south of the Yangtze River in China (especially in Jiangxi, Hunan, Guangdong, Guangxi and Sichuan) and is one of the most influential genetic diseases. So what is thalassemia and how to understand it properly? In fact, thalassemia is a kind of anemia caused by the disorder of production of pearl protein, that is to say, a substance called pearl protein that makes up our hemoglobin, and the problem of synthesis of this pearl protein, which causes this kind of anemia, is thalassemia. 2. Classification of thalassemia Thalassemia is divided into four types: α, β, δβ and δ, among which β and α thalassemia are more common. α thalassemia is called α thalassemia due to the deletion or defect of α globin gene, resulting in the reduction or lack of α globin synthesis. Likewise, the deletion or defect of β globin gene, resulting in the reduction or lack of β globin synthesis, is called β thalassemia. 3.Clinical manifestations of thalassemia Mild thalassemia or thalassemia carriers may have no clinical symptoms at all, while moderate to severe thalassemia may have different degrees of anemia symptoms. 4. Genetic risk of thalassemia When thalassemia is detected in infertile couples, especially those who come for assisted reproduction and live without any clinical symptoms, their main concern is whether it will be inherited to the next generation and how great the risk of inheritance is. If one of the couple is a carrier and the other is normal, then half of their children will be normal and half will be carriers. If both husband and wife are carriers of thalassemia, half of their children will be carriers of thalassemia, 1/4 will have severe thalassemia and 1/4 will be normal. 5. How to quickly screen out thalassemia When you go to the hospital for a checkup, you will usually do blood tests, and you can quickly detect the “signs” of thalassemia by looking at two indicators: (1) MCV (mean red blood cell volume) ≤ 82 fl; (2) MCH (mean red blood cell hemoglobin volume) ≤ 27 pg Then, it is suggested that the child may be a carrier of the gene, and both spouses need to be screened for the condition and undergo genetic counseling.