Hemoglobin E disease
Introduction
Introduction to hemoglobin E disease Hemoglobin E disease is also caused by a point mutation in the globin gene, and an amino acid in the -globin chain is replaced by another amino acid, causing a change in the nature and function of hemoglobin. basic knowledge The proportion of illness: 0.005% Susceptible people: no special people Mode of infection: non-infectious Complications: hemolytic anemia
Cause
Hemoglobin E disease etiology
The molecular structure of hemoglobin E is 2226 valley Lai, HbE disease is a homozygous state of HbE, and HbE is slightly unstable to oxidants, resulting in mild hemolytic anemia.
Prevention
Hemoglobin E disease prevention
Pay attention to the usual life and find timely treatment in time.
Complication
Hemoglobin E disease complications Complications hemolytic anemia
Mild hemolytic anemia and mild swelling of the liver and spleen, anemia increased after infection and exposure to oxidants.
Symptom
Hemoglobin E disease symptoms Common symptoms Hepatosplenomegaly
Mild hemolytic anemia and mild swelling of the liver and spleen, anemia increased after infection and exposure to oxidants.
Examine
Examination of hemoglobin E disease
1. Peripheral blood hemoglobin decreased slightly, MCV decreased significantly, MCH decreased, MCHC was close to normal, and target red blood cells increased in blood samples, reaching 25% to 75%.
2. The red blood cell osmotic fragility test was significantly reduced (complete hemolysis at 0.18% to 0.24%).
3. Hemoglobin electrophoresis shows that HbE is as high as 92% to 98%, no HbA, and HbF is slightly increased or normal.
Diagnosis
Diagnosis and identification of hemoglobin E disease
The disease is mainly diagnosed by hemoglobin electrophoresis results.
However, when alkaline (pH 8.6-8.8) electrophoresis, its moving speed is the same as HbA2 and slightly faster than HbC, which is difficult to distinguish. However, when it is electrophoresed with pH 6.8 starch gel, the moving speed is the same as HbS, and it can be combined with HbC and HbA2. Separation for identification.
