Screening for Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-phosphate dehydrogenase deficiency screening is an important test in newborn screening. Glucose-6-phosphate dehydrogenase is a key enzyme in the hexose phosphate bypass of erythrocyte sugar metabolism. Erythrocyte G-6-PD deficiency refers to a decrease in the activity of red blood cell G-6-PD and/or a change in enzyme properties, resulting in a disease characterized by hemolysis. Basic Information Specialist classification: growth and development examination classification: blood examination Applicable gender: whether men and women apply fasting: fasting Tips: Actively cooperate with the doctor's work. Normal value The methemoglobin reduction value was more than 75%, fluorescence was observed within 10 minutes of the fluorescent spot test, and the nitrotetrazolium blue paper method was purple-blue. The normal value of glucose-6-phosphate dehydrogenase was 12.1 ± 2.09 IU/g Hb (37 ° C). Clinical significance Abnormal result The main clinical manifestations are congenital non-spherical erythrocyte hemolytic anemia, neonatal jaundice, faba bean disease, drug-induced hemolysis, infection-induced hemolysis. If only the red blood cell G-6-PD activity is reduced and/or the nature is changed, and there is no clinical manifestation such as hemolysis, it is called red blood cell G-6-PD deficiency or defect. In China, red blood cell G-6-PD deficiency is the most common type of hereditary erythrocyte enzyme deficiency. People who need to be checked Parents have the disease and the baby also shows the above symptoms. High results may be diseases: hemolytic anemia in children, hemolytic jaundice, prevalence of broad bean disease Taboo before the examination: poor rest, improper diet, excessive fatigue. Requirements for inspection: Actively cooperate with the doctor's work. Inspection process (1) Hemoglobin reduction test Because of the lack of G6PD, red blood cells can not produce enough NADPH, and the test tube is added with methylene blue (acting as hydrogen ion transporter, the methemoglobin can be reduced to positive under the action of reduced methemoglobin reductase and NADPH. When hemoglobin is reduced, the methemoglobin reduction is lower than the normal value (more than 75%), and the severe case is less than 30%. This method is simple and suitable for screening test or group census. The disadvantage is that there is a false positive. (B) Fluorescent spot test NADPH can show fluorescence under long-wave ultraviolet irradiation. G6PD lacks red blood cells with less NADPH, so fluorescence is delayed. Fluorescence occurs within 10 minutes of normal G6PD, and no fluorescence occurs after 30 minutes of severe deficiency. According to this, the activity of G6PD can be inferred, the test operation is convenient, the blood collection is small, and the specificity is also high. (3) The nitrotetrazolium blue paper method red filter paper is reduced to purple blue by G6PD normal red blood cells, and the severe deficiency is still red. Not suitable for the crowd No taboos. Adverse reactions and risks No complications.

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