Hereditary Stomatocytosis

What is Hereditary Stomatocytosis?

Hereditary stomatocytosis is a hereditarily deterministic disease transmitted by an autosomal dominant mode of inheritance. In this disease, the inherited erythrocyte abnormality is caused by a defect in the erythrocyte membrane proteins. In some patients, it is accompanied by hemolytic anemia with signs of intracellular destruction of red blood cells with the predominant destruction of the spleen and the characteristic form of red blood cells.

Symptoms of Hereditary Stomatocytosis

Clinical manifestations of the anomaly does not give the majority of carriers. In patients with hemolytic anemia, the clinical picture resembles microspherocytosis, there are signs of intracellular destruction of red blood cells (increased bilirubin, an enlarged spleen, and no hemosiderin in the urine).

The content of reticulocytes is increased, there is irritation of the red sprout of the bone marrow. The hemoglobin level outside the crisis is 80–100 g / l, and during the crisis period it often drops sharply, and the level of indirect bilirubin increases. As with microspherocytosis, there is a tendency to the formation of stones. There are changes in the skeleton.

Diagnosis of Hereditary Stomatocytosis

Diagnosis of hereditary stomatocytosis is based on the detection of stomatocytes in the blood smear. It is also advisable to investigate the content of sodium and potassium in red blood cells in these cases. For stomatocytosis, a sharp decrease in the content of potassium in erythrocytes and an increase in the content of sodium are characteristic.

Treatment of Hereditary Stomatocytosis

Treatment is not required if stomatocytosis is detected as an asymptomatic abnormality. In severe crises, with a constantly low level of hemoglobin, severe jaundice, a tendency to the formation of stones, removal of the spleen is recommended. The condition of patients after surgery is significantly improved, the majority of hemoglobin increases, however, signs of increased destruction of red blood cells often remain.