Deficiency of glucose-6-phosphate dehydrogenase (G6FD): causes, symptoms, diagnosis, treatment
Last reviewed: 23.04.2024
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Deficiency of glucose-6-phosphate dehydrogenase (G6PD) is X-linked fermentopathy, is more common in people of negroid race, hemolysis can occur after acute illness or intake of oxidants (including salicylates and sulfonamides). The diagnosis is based on the definition of G6PD, although studies are often negative during acute hemolysis. Treatment is symptomatic.
The only significant defect of the hexosomonophosphate pathway is due to a deficiency of glucose-6-phosphate dehydrogenase (G6PD). There are more than 100 kinds of enzyme mutations. Clinically, the most frequent type is a drug-dependent variant. The disease is linked to the X chromosome and is fully manifested in men and homozygous women, as well as in different degrees expressed in heterozygous women. This anomaly occurs in persons of the Negroid race, about 10% of men, in less than 10% of women and at a lower frequency in the countries of the Mediterranean basin.
[Pathophysiology of deficiency of glucose-6-phosphate dehydrogenase
Deficiency G6PD reduces the amount of energy necessary to maintain the structure of the cell membrane of red blood cells, which leads to a shortening of their life span.
Hemolysis in patients selectively affects older erythrocytes. Hemolysis develops after fever, acute viral and bacterial infections and diabetic acidosis. Less often, hemolysis occurs after the use of drugs or other substances with high oxidative activity and causing oxidation of hemoglobin and the erythrocyte membrane. These drugs and substances include primaquine, salicylates, sulfonamides, nitrofurans, phenacetin, naphthalene, certain vitamin K derivatives, dapsone, phenazopyridine, nalidixic acid, methylene blue, and some legumes. Whether the continuation of the use of these drugs will lead to a state of compensated hemolysis or a lethal outcome depends on the degree of G6PD deficiency and the oxidative potential of the drugs themselves. Since older cells are subject to destruction, hemolysis is usually limited to a lesion of less than 25% of erythrocytes. With more severe G6PD deficiency, severe hemolysis can lead to hemoglobinuria and acute renal failure.
Diagnosis and treatment of glucose-6-phosphate dehydrogenase deficiency
The diagnosis is expected in patients with acute hemolysis, especially in the Negroid race. The G6FD is being determined. When hemolysis develops anemia of jaundice and reticulocytosis. Heinz's body is possible, the particles of the dead cytoplasm can be detected during the hemolysis episode, but are not detected in patients with intact spleen, as they are removed by it. A specific diagnostic cell is the presence in the peripheral blood of erythrocytes having one or more "bites" (about 1 μm) located on the periphery of the cells, possibly resulting from the removal of Heinz bodies from the spleen. Various screening tests are used. However, during and immediately after the hemolysis episode, tests can give false negative results by destroying old red blood cells with the most pronounced G6FD deficiency and the presence of rich G6PD reticulocytes. Specific enzyme studies are the best diagnostic tests. Supportive therapy is provided during the episode of acute hemolysis; Transfusion is necessary only in rare cases. Patients are advised to avoid drugs and substances that initiate hemolysis.