Hereditary elliptotsitoz – Ovalotsitoz – Anemia, associated with an increased krovorazrusheniem
Hereditary elliptotsitoz (ovalotsitoz) - Autosomal dominantly inherited abnormality of red blood cells, associated with disruption of the structure of the membrane of red blood cells. Most carriers of the anomaly does not provide clinical manifestations, and some patients with hemolytic anemia accompanied by intracellular erythrocytolysis mainly in the spleen.
Contents of oval or elliptical red blood cells in healthy individuals may reach 10 %. In patients with hereditary elliptotsitozom number of red blood cells reach 25-75 %.
The etiology and pathogenesis of hereditary elliptotsitoza
Hereditary elliptotsitoz meets as often, as microspherocytosis, but rarely diagnosed, because a significant portion of the carrier of the abnormal gene does not appear to be any evidence of disease.
According to researchers, in cases of asymptomatic abnormalities irregularities in membrane proteins is not observed, and at elliptotsitarnoy hemolytic anemia occurs absence of several protein fractions of erythrocyte membranes.
Assumption, hemolytic anemia that is always observed in cases of homozygous carriers of the gene, It is not confirmed by genetic analysis of reported cases. In some families,, where the disease is inherited from one parent, some children mentioned asymptomatic carriers of the gene, while others - hemolytic anemia. Maybe, that manifestations of the disease requires the inheritance has some characteristic. Probably, matter the individual characteristics of blood supply to the spleen.
Clinical manifestations
Clinical manifestations in the majority of cases no. Elliptotsity identified with a random blood test.
The most thorough examination of such persons does not reveal any signs of increased hemolysis. Clinically elliptotsitarnaya hemolytic anemia is different from microspherocytosis. The spleen is enlarged, It is a place preferred sequestration of erythrocytes.
Laboratory tests hereditary elliptotsitoza
Patients may show anemia of varying severity, stimulation of red bone marrow germ, increase in the number of reticulocytes and indirect bilirubin content. The volume of red blood cells, the concentration of hemoglobin within them do not differ from the normal.
Morphological examination of the blood makes it easy to diagnose, Often, however, along with elliptotsitozom smear detected a certain amount of microspherocytes, revealed poikilocytosis. There have been a decrease osmotic resistance of red blood cells, increase autogemoliza, which is fully corrected glucose.
Often there is a combination elliptotsitoza with other forms of hereditary anemia, such as sickle cell thalassemia.
Differential diagnosis
The differential diagnosis must be carried out with symptomatic elliptotsitozom, which is observed at subleukemic myelosis. Auxiliary value while other studies have germs hematopoiesis, Histology of the bone marrow. The important role played by survey relatives of patients.
The presence of red blood cells in the ovoid B12-deficiency anemia can also sometimes lead to misdiagnosis. For B12-deficiency anemia is most often characterized by older age of the patient, the combination of anemia leukopenia- and thrombocytopenia, morphological changes of erythrocytes (macrocytosis, hyperchromia erythrocytes) reticulocytopenia, instead reticulocytosis, Unlike elliptotsitarnoy hemolytic anemia.
