What is thalassemia

summary

Thalassemia, also known as marine anemia, is a group of genetic diseases. Its pathogenesis is that the decrease or deletion of globin chain of synthetic hemoglobin leads to abnormal hemoglobin structure. This kind of red blood cell with abnormal hemoglobin has lower deformability and shorter life span, which can be damaged by human liver and spleen in advance, leading to anemia and even developmental abnormalities. This kind of disease is also called hemolytic anemia in medicine. Let's talk about thalassemia.

What is thalassemia

First: thalassemia patients at the time of birth also have no obvious symptoms, the performance is as normal as most newborns, can not find mild symptoms of thalassemia. But after infancy, there will be anemia, fatigue, edema, liver and spleen enlargement, and mild jaundice. With the growth of age, there will be face changes such as widened distance between eyes and flattened bridge of nose, respiratory tract infection, acute hemolysis, aggravating anemia symptoms, even hemolytic crisis, life-threatening.

Second: children with severe thalassemia may have stillbirth, or die immediately after birth. Some patients are caused by moderate thalassemia into severe, but its symptoms are more serious than moderate, until death, it is generally impossible to live to adulthood.

Third: thalassemia is caused by deletion or point mutation of globin gene. There are four kinds of peptide chains in globin, namely α, β, γ and δ chains, which are encoded by their corresponding genes respectively. The deletion or point mutation of these genes can cause the synthesis disorder of various peptide chains, resulting in the change of hemoglobin composition.

matters needing attention

Most of this disease occurs in infants, manifested as anemia, weakness, abdominal caking. Most of them are severe dysplasia and often die before adulthood. Mild and intermediate patients can live to adulthood and take part in labor. If we pay attention to labor saving and daily life, we can reduce complications and improve symptoms.