Hereditary piropoykilotsitoz

Hereditary piropoykilotsitoz - Kind of, a rare hereditary hemolytic anemia, associated with disruption of the structure of the protein erythrocyte membrane. It is characterized by a pronounced intracellular hemolysis of erythrocytes, and low resistance to temperature changes.

Etiology and pathogenesis piropoykilotsitoza

Patients found to be defective structure piropoykilotsitozom spectrin. Belloc unstable, It tends to increase the aggregation. Number of spectrin at reduced piropoykilotsitoze.

Clinical manifestations and laboratory parameters piropoykilotsitoza

In infants revealed pronounced yellowness, a significant increase in the spleen and liver enlargement. The hemoglobin content is reduced to 3,1-3,41 mmol / l (50-55 G / l), reticulocyte count rises to 30 %, in the peripheral blood revealed a significant number of erythrokaryocytes. In blood smears revealed microspherocytes, note by the expression Anisocytosis, poikilocytosis were, fragmentation эritrotsitov, significantly marked basophilic erythrocyte punktatsiya. Osmotic resistance of reduced. Autogemoliz show significant partial correction glucose. The activity of the enzymes studied normal, Pathology structure of hemoglobin not found.

A characteristic feature of the disease is the increased sensitivity of red blood cells to a small heat. When the temperature rises to 48 ° C dramatically deformed red blood cells. It appears severe fragmentation poikilocytes. Normally, such a deformation occurs at 52-55 ° C. When piropoykilotsitoze in erythrocytes revealed a large amount of calcium ions, It is actually increasing penetration into red blood cells and slow elimination.

Method for determination of the osmotic resistance of erythrocytes before and after day incubation

Determination of osmotic resistance can be produced as a fresh red blood cells, and erythrocyte, incubated for days at a temperature 37 ° C under sterile conditions.

Reagents.

1. Stock solution, osmotically appropriate 10 % sodium chloride solution.

2. On₂HPO₄ - 27,31 g.

3. NaH₂AFTER₄ - 4,86 g.

4. NaCl — 180 g. All reagents were dissolved in 2 l of water; The pH of the solution should be 7,4. The solution may be stored in a sealed container in the refrigerator for several months. From it is prepared 1% solution, from which all the rest was prepared: 0,85; 0,75; 0,65; 0,55; 0,5; 0,45; 0,4; 0,35; 0,3; 0,25 and 0,1 %. You can cook at once 100 ml working solutions of different concentrations and kept them within 2 weeks in a refrigerator.

Method. The two sterile tubes, containing 2 drops of heparin, pour on 1,5 ml of blood.

One vial was placed in an incubator for a day, Blood was tested in the second day of the taking.

By 5 ml of sodium chloride solution (1 %) and all working solutions poured into centrifuge tubes. To each tube is pipetted from gemometra added 0,02 ml of mixed blood. The tubes were left at room temperature 30 m, then centrifuged at 2000 rev / min for 5 m. Poured from the top layer of each tube and the medical kolorimetriruyut colorimeter when a green filter in a cell with optical path length 1 see against supernatant tubes, contains 1 % sodium chloride.

For 100 % hemolysis taking the absorbance in the supernatant tubes, contains 0,1 % sodium chloride (in the table).

Example.

IN 0,1 % sodium chloride absorbance is 0,65, in 0,4 % - 0,22.

0,65 - 100 % gemoliz

0,22 — x

x=(0,22*100)/0,65=34%

The second tube, placed in thermostat, recovered through 24 h, and the study was repeated.

Diagnostic value

When microspherocytic hemolytic anemia observed decrease in the osmotic resistance of red blood cells. Hemolysis observed in the 0,7-0,65 % solution of sodium chloride in some patients microspherocytosis reveal a decrease osmotic resistance of red blood cells in fresh blood can not, However, in the incubated blood drops sharply. Hemolysis may begin at a concentration of sodium chloride 0,85 %.

When thalassemia, and in some types of hemolytic anemia nesferotsitarnoy osmotic resistance of erythrocytes increases. Hemolysis can begin in 0,35 or 0,3 % sodium chloride.

Determination of osmotic resistance of red blood cells should be carried out in all cases, the presence of intracellular hemolysis. It is desirable to explore the osmotic resistance is not only fresh blood, and incubated for one day.