What is thalassemia major?

summary

Thalassemia is also known as marine anemia. It is a group of hereditary small cell hemolytic anemia. The common feature is that one or more of globin peptide chains in hemoglobin are reduced or unable to be synthesized due to the defect of globin gene. According to the different clinical symptoms of thalassemia, it can be divided into mild thalassemia, intermediate thalassemia and severe thalassemia. What is thalassemia major? Let's talk about it

What is thalassemia major?

Anemia, hepatosplenomegaly, progressive aggravation, jaundice, and dysplasia appeared several days after birth. Its special manifestations include: large head, widened eye distance, saddle nose, forehead protrusion, and cheek protrusion. Its typical manifestation is buttock shaped head, and long bone can be fractured.

Bone changes are caused by hyperhematopoiesis, widening of bone marrow cavity and thinning of cortex. A few patients had thoracic mass between ribs and spine, cholelithiasis and lower limb ulcer.

Peripheral hemogram showed microcytic hypochromic anemia with different sizes of red blood cells, enlarged central light staining area, abnormal shape, target shape, fragmented red blood cells, nucleated red blood cells, stippled red blood cells, polychromatic red blood cells, Howe Chou's corpuscle, etc; Reticulocytes were normal or increased. In bone marrow, the proliferation of red blood cell system was obvious and active, with the majority of middle and late erythroblasts. The change of mature red blood cell was the same as that of peripheral blood.

matters needing attention

It is of great significance to carry out population census and genetic counseling, and to do a good job of premarital guidance to avoid the marriage of thalassemia gene carriers. Prenatal diagnosis by gene analysis can be used to diagnose severe pregnancy in early pregnancy β and α Diagnosis of thalassemia fetus and timely termination of pregnancy, in order to avoid the occurrence of fetal edema syndrome and severe β Birth of thalassemia patients is an effective method to prevent the disease.