Globin Chain Synthesis

Pathology
The defects in beta subunits in the globin tetramer result in absent or reduced beta chain synthesis. The alpha chain production is unaffected; therefore, there will be an imbalanced globin chain synthesis. This will lead to an overproduction of alpha chains. In the absence of the other subunit (which is beta subunit), they are unstable and they will give rise to a large inclusions, this intracellular inclusion will interfere with the red cell maturation. Ultimately, this will lead to intramedullary destruction of red cell precursors. The red cells that mature and contain only alpha chain inclusion will have shape abnormalities. Hence, they will have a difficult times passing the microcirculation, particularly in the spleen. The shape abnormalities could also include abnormalities in the membrane structure and membrane permeability. In response, the body react for these abnormal red cells and destroy them, which leads into anemia. Anemia of this type is a result of both type of disorder in the body, the first one is the ineffective erythropoiesis, and the second one is the short life span of the abnormal red cells.

Table 1: Thalassemia genotypes and its

The deformity in the hemoglobin tetramer due to the lack of the beta chain will lead to a severe imbalance of globin chain synthesis (alpha >> beta) and this will results in ineffective erythropoiesis and severe microcytic hypochromic anemia. Precipitate will occur due to the excess unpaired alpha-globin chains aggregate, and this will damage red cell membranes. The damage will lead into intravascular hemolysis. Destruction of the premature erythroid precursors will lead to intramedullary death and ineffective