Diseases of children (pediatrics)

Symptoms of sickle cell anemia

Sickle cell anemia occurs in the form of episodes of pain attacks (crises) associated with capillary occlusion as a result of spontaneous "sickle formation" of erythrocytes, alternating with periods of remission. Crises can be provoked by intercurrent diseases, climatic conditions, stress, and spontaneous occurrence of crises is possible.

Causes and pathogenesis of sickle cell anemia

The main defect in this pathology is the production of HbS as a result of a spontaneous mutation and deletion of the β-globin gene on chromosome 11, which leads to the replacement of valine with glutamic acid in the VIP position of the polypeptide chain (a2, β2, 6 val).

Sickle cell anemia

Sickle cell anemia is a severe chronic hemolytic anemia that occurs in individuals homozygous for the sickle cell gene and is associated with a high mortality rate.

Thalassemias

Thalassemias are a heterogeneous group of hereditary hypochromic anemias of varying severity, which are based on a disruption in the structure of globin chains.

Glucose-6-phosphate dehydrogenase deficiency: causes, symptoms, diagnosis, treatment

The most common enzymopathy is glucose-6-phosphate dehydrogenase deficiency, found in approximately 300 million people; in second place is pyruvate kinase deficiency, found in several thousand patients in the population; other types of red blood cell enzymatic defects are rare.

Infantile infantile pycnocytosis.

Diseases caused by disruption of the lipid structure of the erythrocyte membrane also include infantile pycnocytosis, which is not a persistent hereditary pathology and has a transient nature and a favorable prognosis.

Pyruvate kinase deficiency: causes, symptoms, diagnosis, treatment

Deficiency of pyruvate kinase activity is the second most common cause of hereditary hemolytic anemia after G6PD deficiency. It is inherited in an autosomal recessive manner, manifests itself as chronic hemolytic (non-spherocytic) anemia, occurs with a frequency of 1:20,000 in the population, and is observed in all ethnic groups.

Hemolytic anemia in children

The proportion of hemolytic anemia among other blood diseases is 5.3%, and among anemic conditions - 11.5%. In the structure of hemolytic anemia, among other blood diseases, hemolytic anemia is about 5.3%, and among anemic conditions - 11.5%. In the structure of hemolytic anemia, hereditary forms of diseases predominate.

Hereditary spherocytosis (Minkowski-Schoffar disease)

Hereditary spherocytosis (Minkowski-Chauffard disease) is a hemolytic anemia based on structural or functional disorders of membrane proteins, occurring with intracellular hemolysis.

Treatment of folic acid deficiency

The optimal treatment result is achieved by prescribing folic acid in a dose of 100-200 mcg per day. One tablet contains 0.3-1.0 mg of folic acid, injection solution - 1 mg/ml. The duration of therapy is several months, until a new population of erythrocytes is formed.