How to screen for male thalassemia?

Mediterranean anemia is actually a very common disease. Many people may not know what this professional term means. Although it sounds complicated, it is simply a recessive genetic disease. Many parents who are planning to have a baby have heard about Mediterranean anemia when they go to the hospital for a physical examination. Now I will talk in detail about the screening method for male Mediterranean anemia.

The diagnosis of anemia is mainly based on clinical manifestations, laboratory tests and genetic diagnosis. Severe α anemia fetuses, also known as Bart's hydrops fetuses, are caused by the loss of all four α genes and the inability to synthesize α globin chains. The disease often begins in the second trimester of pregnancy, with symptoms of fetal edema, heart malformations, fluid accumulation in the body cavity, and a large and edematous placenta. Most of them die in the uterus in the third trimester of pregnancy. Even if they can carry the baby to term, they often die within a few minutes after birth. Pregnant women often have serious complications such as pregnancy-induced hypertension, premature placental abruption, convulsions, and severe hemorrhage during or after delivery.

Another less severe form of α anemia, also known as hemoglobin H disease, is similar to severe β anemia or has slightly milder anemia symptoms. These two types of anemia have no special clinical manifestations in the fetal period, and can be carried to term. They are almost the same as normal fetuses at birth, and usually begin to develop symptoms around 6 months after birth. It manifests as progressive hemolytic anemia, with hemoglobin as low as 2-4g/dl, hepatosplenomegaly, sallow complexion, and paleness. There is currently no effective treatment for this disease at home or abroad, and life can only be maintained by blood transfusion. Because various complications are very likely to occur, most of them die in adolescence, bringing a heavy burden to families and society.

How is thalassemia inherited?

If both husband and wife are mild anemia (i.e. carriers of anemia genes), the probability of inheritance to offspring after pregnancy is: 1/4 is a normal fetus, 1/2 is mild anemia (same as parents), and 1/4 is severe anemia. The inheritance of thalassemia has nothing to do with gender, and the probability of developing the disease is equal for male and female fetuses.

In fact, for many families who are about to get married or have babies, there is no need to worry if the male thalassemia screening shows mild anemia. The important thing is to take it seriously. Finally, I would like to urge all friends to remember to do a pre-marital check-up before getting married. This is good for others and yourself. The screening method introduced by the editor is definitely effective.