Hereditary dentocytosis
Hereditary dentocytosis is a disease that is transmitted by an autosomal dominant type of inheritance. This disease is associated with a defect in the structural proteins of the erythrocyte membrane, which is accompanied in some people by the development of anemia with the predominant destruction of the erythrocytes by the spleen and the characteristic form of these blood cells. This form of hereditary hemolytic anemia was first described in 1961. The mother and daughter had enlarged spleens, the life span of erythrocytes was dramatically reduced. Removal of the spleen in this case had no positive effect. Most of the red blood cells of the daughter and mother had a peculiar form: in the center of the erythrocyte there was an unpainted patch bounded by two curved lines connected along the sides. Outwardly, such blood cells resembled the shape of the mouth, and the authors called such erythrocytes dentites( from the Latin stomal - "mouth").Anemia in both women was quite pronounced. The hemoglobin content was 70-90 g / l, and during the exacerbation it decreased to 30-50 g / l.
Clinical manifestations of the anomaly does not give the majority of carriers of the mutant gene. In individuals with the development of hemolytic anemia, all manifestations of the disease resemble those of microspherocytosis( increased bilirubin, an increase in the spleen).Increased content of young forms of red blood cells. The level of hemoglobin outside the exacerbation is 80-100 g / l, and during the exacerbation it often falls sharply and the level of bilirubin increases. Just like with microspherocytosis, there is a tendency to form stones. There are changes in the skeleton.
Detection of hereditary dentocytosis is based on the detection of dentites in the blood smear. If an anomaly is detected, the blood is taken several more times to study to make sure there is no error.
No treatment is required if dentocytosis occurs without any manifestations. In severe exacerbations, with a constantly low level of hemoglobin, with severe jaundice, a tendency to form stones is removed spleen. The condition after such an operation is significantly improved, most people have hemoglobin levels, but the signs of increased erythrocyte destruction often remain.