Hereditary hemolytic anemia
In the early 40's. XX century.there were separate descriptions of cases of hereditary hemolytic anemia without the main, as believed at that time, its sign - the appearance of microspherocytes. Such hemolytic anemia is called nesferocytic. Their main signs were the absence of changes in the shape of the erythrocyte, a certain tendency to increase the erythrocyte diameter, ineffectiveness or incomplete effect of spleen removal, an autosomal recessive type of inheritance. Later it was found that a significant part of the so-called hereditary nonsferocytic hemolytic anemia is associated with a variety of disorders of erythrocyte enzymes.
As a result of insufficient activity of erythrocyte enzymes, the generation of energy necessary for the normal functioning of erythrocytes is disrupted, which in turn shortens their life span or leads to an inadequate ability of red blood cells to withstand the effects of oxidants. This causes oxidation of hemoglobin and rapid death of red blood cells. The cause of increased destruction of erythrocytes may be a disruption in the activity of enzymes involved in the exchange of ATP( a molecule whose cleavage generates the energy necessary for the vital activity of all organs and tissues of the human body).
The manifestations of hemolytic anemia with a deficiency of erythrocyte enzymes can be different - from severe to asymptomatic forms of the disease. In most cases, on emerging manifestations, one enzyme deficiency can not be distinguished from another. In most cases, there is a slight hemolytic anemia with a constant decrease in hemoglobin to 90-110 g / l and periodic exacerbations in infection or pregnancy. In some people, the hemoglobin content may not decrease, and the disease is manifested only by a slight icteric coloration of the eyes. Significantly less often with this type of anemia there is severe jaundice. In almost all cases, the examination reveals an increase in the size of the spleen, in some individuals very significant. Some may have a liver increase.
The combination of a deficiency in the activity of erythrocyte enzymes with other hereditary diseases is described. It is possible to combine muscular, and in some cases, severe damage to the nervous system.
Blood counts for this type of anemia may vary, depending on the severity of the disease. The hemoglobin and erythrocyte content may be normal, but severe anemia is possible, when the hemoglobin level is only 40-60 g / l. The number of leukocytes and platelets remains within normal limits. ESR is also usually normal. For all forms of hemolytic anemia with permanent destruction of erythrocytes, bone marrow irritation is characteristic, which is manifested by a compensatory increase in the number of immature forms of erythrocytes( reticulocytes) that leave the bone marrow into the bloodstream.
Treatment is prescribed only when it is required by the manifestation of hemolytic anemia. Blood transfusions are required only with severe exacerbations of the disease with signs of circulatory disorders. Removal of the spleen gives a definite, albeit incomplete, effect.