Hereditary Pyropoikilocytosis

What is Hereditary Pyropoikilocytosis?

This is a rare hereditary hemolytic anemia associated with impaired protein structure of the erythrocyte membrane; it is accompanied by severe intracellular destruction of red blood cells and low resistance of red blood cells to temperature changes.

Symptoms of Hereditary Pyropoikilocytosis

In children suffering from this disease, from an early age there is a sharp yellowness, a significant increase in the size of the spleen, as well as the liver.

Diagnosis of Hereditary Pyropoikilocytosis

The hemoglobin content is reduced to 5055 g / l, the content of reticulocytes is increased to 30%. Microspherocytes, pronounced anisocytosis, poikilocytosis, erythrocyte fragmentation, a significant number of erythrocaryocytes are observed in blood smears. The disease causes the increased sensitivity of erythrocytes to slight heating: erythrocytes are sharply deformed, severe fragmentation, poikilocytosis appear. Normally, such deformation occurs at 51-52 ° C. In pyropoikilocytosis, erythrocytes exhibit an unusually high concentration of calcium ions as a result of their increased penetration into the cell and delayed elimination.