Diseases of children (pediatrics)

Diagnosis of sickle cell anemia

In the hemogram, normochromic hyperregenerative anemia is detected - the concentration of hemoglobin is usually 60 ~ 80 g / l, the number of reticulocytes is 50-150%. In the smears of peripheral blood usually contain red blood cells, subjected to irreversible "sickle" - sickle erythrocytes; Aniso- and poikilocytosis, polychromatophilia, ovalocytosis, micro- and macrocytosis are also found, and the Kebot and Jolly bodies are found.

Symptoms of sickle-cell anemia

Sickle-cell anemia occurs in the form of episodes of painful attacks (crises) associated with the occlusion of capillaries as a result of spontaneous "cirrus" erythrocytes alternating with periods of remission. Crises can be provoked by intercurrent diseases, climatic conditions, stresses, spontaneous emergence 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 spontaneous mutation and deletion of the β-globin gene on chromosome 11, which leads to the replacement of valine by glutamic acid in the position of the VIP-polypeptide chain (a2, β2, 6 val).

Sickle cell anemia

Sickle cell anemia is a severe chronic hemolytic anemia that occurs in persons homozygous for the sickle-shaped gene, accompanied by a high mortality rate.

Thalassemia

Thalassemia is a heterogeneous group of heredi- cally conditioned hypochromic anemia with different severity of the flow, which is based on a disruption in the structure of the globin chains.

Deficiency of glucose-6-phosphate dehydrogenase: causes, symptoms, diagnosis, treatment

The most common enzyme is the deficiency of glucose-6-phosphate dehydrogenase - identified in about 300 million people; on the second place a deficiency of pyruvate kinase activity, found in several thousand patients in the population; The remaining types of enzyme defects of red blood cells are rare.

Children's infantile pycnocytosis

The children's infantile pycnocytosis, which is not a persistent hereditary pathology and has a transient character and a favorable prognosis, also applies to diseases caused by a disorder in the structure of lipids of the erythrocyte membrane.

Pyruvate kinase deficiency: causes, symptoms, diagnosis, treatment

The deficiency in pyruvate kinase activity is the second most frequent cause of hereditary hemolytic anemia after the G-6-PD deficiency. It is inherited autosomally recessively, manifested by chronic hemolytic (nesferocytic) anemia, occurs at a frequency of 1:20 000 in the population, 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 is about 5.3%, and among anemic conditions - 11.5%. In the structure of hemolytic anemia, hereditary forms of diseases prevail. Hereditary forms of diseases dominate.

Hereditary spherocytosis (Minkowski-Schoffar's disease)

Hereditary spherocytosis (Minkowski-Schoffar's disease) is hemolytic anemia, which is based on structural or functional disorders of membrane proteins, which proceeds with intracellular hemolysis.

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