At hereditary elliptotsitarny hemolitic anemia the quantity of ellipse-shaped (oval) erythrocytes can vary in wide limits (from 25 to 90%) while in smears of peripheral blood of healthy faces the quantity makes them 10 — 15%.
Epidemiology Frequency of occurrence of a gene of an elliptotsitoz in population makes 0,02 — 0,04%.
Etiology and pathogeny Elliptotsitoz is inherited on autosomal dominantly type. The disease has the forms of an asymptomatic carriage of a pathological gene and clinically explicit elliptotsitarny hemolitic anemia. The first meets more often, the second makes about 10% of all revealed cases of a hereditary elliptotsitoz. In a pathogeny of this form of anomaly significance is attached to lowering of content of ATP and 2,3-DFG in erythrocytes, to disturbances of electrolytic balance between To and Na, and also to absence of several fractions of protein of a membrane of erythrocytes.
Classification Allocate an asymptomatic form of an elliptotsitoz, elliptotsitarny hemolitic anemia as a nosological form and symptomatic elliptotsitoz at other diseases.
Approximate formulation of the diagnosis: Hereditary elliptotsitarny hemolitic anemia with a significant amount of oval erythrocytes in blood, strengthening of an erythrogenesis in marrow, increase in a spleen and free fraction of bilirubin in blood serum, periodically arising yellownesses of skin and darkening of urine.
Clinic The asymptomatic form of an elliptotsitoz usually is found accidentally at research of peripheral blood. The clinical picture of elliptotsitarny hemolitic anemia in essence reminds a hereditary microspherocytosis. The disease has a chronic current, is aggravated during the periods of hemolitic crises which frequent reason accession of an infection is.
Verification of the diagnosis The morphological researches revealing in blood considerably expressed elliptotsitoz erythrocytes in a complex with the clinical data identical to a hereditary microspherocytosis, allow to make the diagnosis. Often cases of a combination of an elliptotsitoe to drepanocytic anemia, a thalassemia and other forms of hereditary anemias meet. Symptomatic elliptotsitoz can be at a subleukemic myelosis and B12-scarce anemias.
Treatment Medical actions at elliptotsitarny hemolitic anemia are similar used at a hereditary microspherocytosis. The forecast favorable at the patients who transferred a splenectomy at the others development of heavy hemolitic crises, cholelithiasis, thromboses is possible.