congenital erythrocytic disease
Introduction
Introduction to congenital erythrocyte disease Congenital erythrocyte membrane disease means that the surface area of the cell membrane is reduced to be inconsistent with the cell connotation. There are several different membrane protein abnormalities leading to changes in spherical red blood cells, and the reduction of red blood cell surface area, making it necessary for variability through the spleen microcirculation. Decreased, thus causing hemolysis in the spleen. The degree of anemia varies widely, and the osmotic fragility of red blood cells is characteristically increased. basic knowledge The proportion of illness: 0.005% Susceptible people: infants and young children Mode of infection: non-infectious Complications: anemia
Cause
Causes of congenital erythrocyte disease
The surface area of the cell membrane is reduced to be inconsistent with the cell connotation. There are several different membrane protein abnormalities leading to changes in the spheroidal red blood cells, and the reduction of the surface area of the red blood cells, which reduces the variability necessary for spleen microcirculation, resulting in the occurrence of spleen. Hemolysis.
Prevention
Congenital erythrocyte disease prevention
The disease is a hereditary disease and there are no effective preventive measures.
Complication
Congenital erythrocyte disease complications Complications anemia
A common complication of the disease is anemia.
Symptom
Congenital erythrocyte disease symptoms Common symptoms Astragalus splenomegaly hemolysis
Spherical red blood cells hemolysis, anemia, jaundice and splenomegaly, usually no or slight hemolysis, mild or no anemia, often splenomegaly, abnormal red blood cells appear to be caused by membrane protein changes.
Examine
Examination of congenital erythrocyte disease
The degree of anemia varies widely, the red blood cell count is generally 3 million to 4 million / l, can be reduced to less than 1 million / l in the case of aplastic crisis, hemoglobin also decreases proportionally, because red blood cells are spherical, and the average red blood cells The volume is normal, the average diameter of red blood cells is slightly lower than normal, so the red blood cells resemble small spherical red blood cells, the average red blood cell hemoglobin concentration is increased, the reticulocyte increase (up to 15% to 30%) and leukocytosis are common.
The osmotic fragility of red blood cells is characteristically increased, but if the mild cases are not incubated for 24 hours in sterile defibrinated blood at 37 ° C, the test results may be normal, the direct anti-globulin test (Kum test) is negative, red blood cells Autolysis increases, but can be corrected after adding glucose.
Diagnosis
Diagnosis and diagnosis of congenital erythrocyte membrane disease
diagnosis
It is not difficult to make judgments based on clinical symptoms and laboratory tests.
Differential diagnosis
1. Iron deficiency erythrocyte osmotic fragility can be reduced;
2. Autoimmune hemolysis has hemolysis, spherical red blood cells are also significantly increased, coombs test is positive, and adrenal cortical hormone therapy is effective and can be identified.
