The thalassemia is defined as a hemolytic disorder which is mainly due to a genetic mutation that unbalances the production of hemoglobin, mainly affecting the chains which constitute the protein part (α and β) , ie process difficult globin synthesis, which results in the decrease in the hemoglobin concentration at the erythrocyte level, normally the amount of α and β chains must be equal to maintain their balance.
This pathology presents as clinical manifestations, bone deformities, since the bones increase their diameter from the inside to give rise to an increase in erythropoietic production, these deformities are observed more frequently in the nose being flattened or flattened, which generates widening of the separation Among the ocular globules, the dental crown specifically of the molars is prominent, which produces an atrophy at the level of the upper jaw; Thalassemia in its early phase at the laboratory level can be confused with iron deficiency anemia (due to iron deficiency).
There are varieties of thalassemia, this will depend on the globin chain that is affected, the ones with the highest incidence are α-thalassemia and β-thalassemia , which translates into a deficiency or condition in the synthesis of α chains and deterioration in the synthesis of β chains, respectively. The β-thalassemia, the synthesis of the β chains are diminished or absent, thus generating a large number of synthesis of free α chains. This uneven or unbalanced generation has the main adverse effects; chronic hemolytic process, ineffective erythropoiesis (inability of erythrocytes to circulate in peripheral blood, as they are destroyed in bone marrow) and ultimately decrease in productiontotal hemoglobin, which generates an erythroid line with decreased MCV, that is, microcytic and hypochromic (with low levels of hemoglobin), the excessive amount of free α chains precipitate or are oxidized and subsequently adhere to the cell membrane and the cytoskeleton of the erythrocyte thus causing cellular instability subsequently hemolysis (destruction of the cell) occurs.
And the few erythrocytes that have precipitations adhered to their membrane are recognized as antigens (foreign agents to the body) by macrophages within the bone marrow, therefore they phagocytose it to prevent their passage to the peripheral blood. Α-thalassemia differs from β because in this situation there is a decrease in the synthesis of the α chain, however the values of hemoglobin A2 and fetal hemoglobin are within the normal range.
