Thalassemia, I believe many people have heard of this disease, especially in the southern part of China. But how much do you know about this disease? I. What is thalassemia? Thalassemia (or thalassemia for short) is originally found in the Mediterranean region and hence its name, also known as “marine anemia”. In China, thalassemia is most common in Guangdong, Guangxi, Sichuan and Guizhou, followed by the provinces and cities south of the Yangtze River. In medicine, it also has a name called “pearl protein production disorder anemia”, looking at this name, we know that “geodystrophy” is caused by the problem of pearl protein. First of all, let’s briefly talk about pearl protein, two alpha pearl protein chains and two beta pearl protein chains make up the hemoglobin of a normal adult, just like a truck with four walls for loading and transportation. If the synthesis of the globin chains is impaired by one or more abnormal globin genes in the body, it will make the hemoglobin truck fail to function normally and lead to anemia and hemolysis, causing different degrees of anemia. According to the difference of the affected globin chain, it can be divided into two categories: α-thalassemia and β-thalassemia. What are the manifestations of thalassemia? Depending on the number of affected globin chains, the manifestation of thalassemia may vary in severity. Carriers may carry only the abnormal globin gene without clinical manifestations such as anemia, and these patients do not have any physical discomfort and cannot know whether they have “thalassemia” without routine blood tests. Patients with mild anemia can have mild anemia, and abnormalities in blood count and hemoglobin electrophoresis can be detected during physical examination, but their daily life is basically unaffected. Patients with hemoglobin H disease or intermediate beta-hemoglobinemia have moderate anemia, often accompanied by large liver and spleen, jaundice, etc. Among them, hemoglobin H disease may aggravate anemia due to infection, pregnancy, and taking certain drugs. The former may have fetal edema, pallor, ascites, and significant enlargement of liver and spleen, mostly dying in utero in late pregnancy or a few hours after delivery; the latter gradually pales six months after birth, with progressive worsening of anemia, accompanied by jaundice, hepatosplenomegaly, growth retardation, osteoporosis, and also There are special facial features (forehead bulge, sunken nose, widened eye spacing), etc. How do I get thalassemia? The problem of “thalassemia” is a genetic error, inherited from the parents. A normal person inherits 2 alpha-jugin genes and 1 beta-jugin gene from each parent, so each person has 4 alpha-jugin genes and 2 beta-jugin genes. According to what has been mentioned before, any problem with one of these 6 globin genes, whether alpha or beta, will lead to the occurrence of “geodystrophy”, so having a child with “geodystrophy” genes is like buying a lottery ticket, if the parents do not give the child an abnormal gene, then the lucky child will be the one with the abnormal gene. If the parents do not give the abnormal gene to the child, then the lucky child will be a completely normal child; if the parents give a small amount of the abnormal gene, the child may only carry or have a mild form of thalassemia; if they are unfortunate enough to give a large amount of the abnormal gene, then it is very likely that the child will have a heavy form of thalassemia. If both parents do not have the gene for leukodystrophy, the child will not have access to the abnormal gene for leukodystrophy. For example, if one of the parents is a carrier and the other is normal, their child may be a carrier or normal, with a 50% chance each; if both parents are carriers, then it is possible to have a child with severe leukemia. 4. How do I know if I or my family members have thalassemia? Since “thalassemia” may have no abnormal manifestations at all, and there is a risk of hereditary transmission, it is very important to clarify whether you and your family have “thalassemia”. Whether or not there is any abnormal manifestation, “thalassemia” can be shown through routine tests. Commonly used tests are as follows: 1. Blood test: This is the most routine, economical and convenient test, which is indispensable for routine wedding test and maternity test, but the disadvantage is that it can only be used as the most rough screening test, and the diagnosis of “thalassemia” cannot be clarified based on blood test. How to read the report when you get the routine blood test? First, look at the hemoglobin (Hb), which can be normal or reduced (anemia) in patients with “thalassemia”, but note that reduced hemoglobin only indicates anemia, not the cause of anemia; second, look at the red blood cell volume (MCV), mean red blood cell hemoglobin content (MCH) and mean red blood cell hemoglobin concentration (MCHC), which are significantly lower in patients with thalassemia, regardless of whether their hemoglobin is normal or not. Therefore, if you see that the above three indicators are significantly lower than the reference values in the routine blood results, you should be alert to the possibility of “thalassemia”, and then you need to seek further help from a specialist for differential diagnosis. However, it is important to emphasize that the clinical diagnosis of “thalassemia” cannot be made solely on the basis of a decrease in MCV, MCH and MCHC, because some other anemias may also show a decrease (e.g. iron deficiency anemia). 2.Hemoglobin electrophoresis: There are three common indicators of hemoglobin electrophoresis, HbA, HbF and HbA2, with the following meanings: normal hemoglobin electrophoresis in resting gene carriers and α-anemia. HbA2 is increased in mild beta thalassemia, >3.5% (4%-8%), HbF is normal or mildly increased (<5%< span="">); HbF is up to 10% in intermediate beta thalassemia; HbF is up to 30%-90% in severe beta thalassemia, HbA is mostly below 40% or even 0%. 3.Gene diagnosis: This is the means to confirm the diagnosis of thalassemia, which can clarify the genetic type of “thalassemia”, but the disadvantage is that it is more expensive. V. How to prevent thalassemia? Many people do not know whether they have thalassemia or not because the carrier or mild thalassemia does not affect their daily life and does not require treatment, and there is no way to know if they are not screened. Especially in economically and medically underdeveloped areas, even babies with severe “thalassemia” are born before they know it is caused by their parents, which will bring a great burden to the family and society. Since “thalassemia” is a genetic disease, it means that it can be prevented to a large extent by human intervention. While it is understandable that mothers should be screened for “thalassemia” when they are pregnant, sometimes there is a lack of understanding when fathers are asked to be screened as well. In fact, each person’s genes are given by both parents and are predetermined from the beginning of fetal formation. If the mother is a carrier, the father’s genes are even more important. Screening for geodontia is usually done routinely during pregnancy, especially in areas with a high prevalence of geodontia in the south. According to the above mentioned, if there are abnormalities in both routine blood and hemoglobin electrophoresis, you need to be careful about the possibility of “thalassemia”, and then you can choose Further genetic tests may be performed. If unfortunately both parents are carriers, the amniotic fluid test can be used to determine whether the condition is passed on to the baby, so that timely intervention can be made to prevent the birth of a child with severe thalassemia. Lastly, I would like to remind you that blood tests are the most common tests that we often come across in our daily lives, such as during health check-ups, when we visit the cough and cold clinic, etc. It is important that we have more copies of our own blood tests. If we take care of ourselves and pay attention to the normal results of Hb, MCV, MCH and MCHC, and consult with our specialist in time, we can stop worrying when we are pregnant and give birth.