What Is an Enzyme Deficiency?

Studies have found that there are more than 40 enzymes involved in red blood cell metabolism. If a genetic defect occurs, the activity of certain enzymes is reduced, which affects the metabolism and function of red blood cells and causes hemolytic anemia.

Enzyme deficiency

The study found that participation

The study found that participation

Hemolytic anemia caused by erythrocyte enzyme deficiency, originally called congenital non-spherical cell hemolytic anemia, is now called hereditary non-spherical cell hemolytic anemia (HNHA). According to the results of autolysis test, this anemia is divided into two types: and . In the autohemolysis test, red blood cells undergo hemolysis after being incubated in the patient's own serum. If glucose or ATP is added first, the hemolysis can be partially corrected for type I; hemolysis cannot be corrected by glucose and can be partially corrected by ATP, then HNHA type. Type is caused by a defect in the enzyme in the hexose phosphate bypass (HMP), and the deficiency of glucohexaphosphate dehydrogenase (G6PD) is the most common type; type is caused by a defect in the enzyme in the direct sugar hydrolysis (EMP) pathway Caused by the lack of pyruvate kinase (PK).
HNHA type I is a rare type of G6PD deficiency. It is known that more than 80 of more than 220 variants of G6PD can cause HNHA, and the activity of G6PD in red blood cells is extremely lacking or absent. Patients often have chronic hemolytic anemia from infancy or childhood, and sometimes jaundice at birth. Hemolysis can be exacerbated by fever, infection, or medication, but most have no obvious triggers. Splenomegaly is common. The degree of hemolysis and anemia is generally mild to moderate. There are no spherical cells, and the erythrocyte penetration is normal. Reticulocyte counts often increase. Patients with mild anemia do not need special treatment, but patients with severe anemia often require blood transfusion. Although the spleen is swollen, splenectomy has no obvious effect, and only occasionally can reduce anemia.