Hereditary Hemolytic Anemia Due to Impaired Activity of Erythrocyte Enzymes

What is hereditary hemolytic anemia caused by the disturbance of the activity of erythrocyte enzymes?

Reducing the activity of red blood cell enzymes usually entails a violation of ATP production in these red blood cells. This pathology violates the ionic composition of erythrocytes, as a result of which their lifespan is reduced, and the ability of erythrocytes to withstand the effects of oxidizing agents decreases. This causes hemoglobin oxidation and the formation of unsaturated fatty acid peroxides in the erythrocyte membrane and the rapid death of erythrocytes. The cause of increased destruction of red blood cells can be a violation of the activity of enzymes involved in the metabolism of ATP.

Causes of Hereditary hemolytic anemia caused by impaired activity of erythrocyte enzymes

The breakdown of glucose in red blood cells is carried out mainly by glycolysis (the process of splitting carbohydrates). 1 molecule of glucose is split into 2 molecules of lactic acid. The only source of energy in red blood cells is glycolysis. This process consists of a series of consecutive reactions. Thus, after the chain of reactions, 2 ATP molecules are consumed, and 4 are formed, since 2 molecules of pyruvate arise from each glucose molecule. This small amount of energy provides the erythrocyte with maintaining a normal ionic balance.

Pathogenesis during Hereditary hemolytic anemia caused by impaired activity of erythrocyte enzymes

In the mechanism of development of anemia associated with a deficiency of the activity of glycolysis enzymes, the main role is played by impaired energy production, as a result of which the ionic composition of erythrocytes changes, their life expectancy is shortened.

When enzyme activity is disrupted, the destruction of red blood cells is associated with membrane peroxidation, and more often red blood cells are destroyed when exposed to oxidizing agents, usually in the vascular bed. Sometimes with these enzyme disorders, intracellular destruction of red blood cells occurs, which is indistinguishable in the clinical picture from the destruction of red blood cells in anemias associated with deficiency of glycolysis enzymes.