How can premarital screening prevent thalassemia?

Thalassemia, also known as thalassemia, is a hereditary hemolytic anemia disease, an autosomal recessive disorder characterized by hemolysis, ineffective erythropoiesis and varying degrees of microcytic hypochromic anemia. The prevalence of thalassemia is high in southern and southwestern China, with a higher incidence in Guangdong Province. Thalassemia is divided into two categories: α-type and β-type, and according to the severity of the disease, it can be divided into light, intermediate and heavy types. The mild form of thalassemia has no obvious symptoms and requires no special treatment. α-type thalassemia is a severe lack of oxygen in the fetus and most of the fetuses die in utero at 30-40 weeks of gestation or a few hours after delivery. β-type thalassemia is a progressive worsening of anemia six months after birth and there is no effective treatment except bone marrow transplantation, so the fetuses need long-term blood transfusion to maintain life and most of them die in adolescence. Our department has been treating children with severe thalassemia for a long time, and they are regularly treated with blood transfusions and iron removal, which cause growth retardation and poor resistance. Therefore, we need to take active measures to eliminate the birth of children suffering from thalassemia. In Guangdong, a region with a high prevalence of leukodystrophy, premarital and prenatal screening for leukodystrophy is recommended for young people. A simple blood count and hemoglobin analysis can be used for initial screening. Further genetic testing is recommended for those who have a predisposition to thalassemia. If neither spouse is a carrier, the child will not have the gene. If only one of the spouses is a carrier, there is a 1 in 2 chance that the child will be a carrier of the gene. If both spouses are carriers, there is a 1 in 4 chance that the child will be “normal” and a 1 in 2 chance that the child will be a carrier of the gene, but a 1 in 4 chance that the child will have severe leukodystrophy. Prenatal diagnosis is required for both partners with the same type of thalassemia. Prenatal diagnosis can be done at 14 to 21 weeks of gestation, when amniocentesis is performed under ultrasound guidance to draw amniotic fluid for fetal gene analysis for thalassemia. If the fetus is normal or mild, the child can be safely born; if it is heavy, timely induction of labor is recommended.