Hereditary stomatotsitoz – Anemia, associated with an increased krovorazrusheniem

Hereditary stomatotsitoz – autosomal dominantly inherited abnormality of red blood cells or a group of anomalies, associated with defective proteins blocked membrane. In some of the media accompanied by hemolytic anemia with signs of hemolysis with the predominant intracellular destruction of red blood cells and spleen with the characteristic shape of red blood cells.

The etiology and pathogenesis of hereditary stomatotsitoza

Most likely, when stomatotsitoze, as in microspherocytosis, a violation of the structure of the membrane protein, leading to a breach of its permeability for monovalent ions (potassium and sodium) during normal permeability of divalent.

Maybe, A symptom stomatotsitoza combines several clinical entities. At the moment it is not yet clear, stomatotsitoz why in some cases it gives the clinical manifestations, while others are asymptomatic.

Clinical manifestations of abnormalities in most patients no. Patients stomatotsitozom with symptoms of hemolytic anemia clinic resembles the disease microspherocytosis. There have been signs of intracellular hemolysis (increased bilirubin, splenomegaly, lack of hemosiderin in urine.

Laboratory findings

Increasing the content of reticulocytes, has annoyance red sprout bone marrow. Hemoglobin hemolytic crisis period is 4,96-6,21 mmol / l (80- 100 g / l), during the crisis sharply reduced, and the level of indirect bilirubin increases. Just as with microspherocytosis, there is a tendency to form stones. The observed changes in the skeleton.

Diagnosis of hereditary stomatotsitoza based on the detected in a blood smear stomatocytes.

Browse smear should be in the most delicate areas, He must be well fixed to avoid artifact. If any anomaly should be several times to take a patient blood samples, to verify the accuracy of the diagnosis. If you suspect that a study stomatotsitoz desirable content in red blood cells, sodium and potassium. For stomatotsitoza characterized by a sharp decrease in the content of potassium in red blood cells and increase the sodium content.