The enzyme glucose 6 phosphate dehydrogenase (G6PD) plays a crucial role in protecting red blood cells from oxidative damage, so G6PD deficiency is a genetic disorder.
Causes
G6PD deficiency is caused by mutations in the G6PD gene, which is located on the X chromosome. The condition is inherited in an X-linked recessive pattern, which means that the condition is more common in men. When a gene is mutated in a female, she is usually asymptomatic, whereas if the gene is mutated in a male, symptoms of the deficiency may develop.
Symptoms
Some medications, infections, or foods that cause oxidative stress may trigger symptoms of G6PD deficiency. Common symptoms include:
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Symptoms of episodic hemolysis include jaundice (yellowing of the skin and eyes), dark urine, fatigue, and pallor.
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Fatigue, weakness, and shortness of breath are symptoms of anemia.
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As a result of the breakdown of red blood cells, hemoglobin is present in the urine.
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Anemia causes pale skin and mucous membranes.
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Splenomegaly: Enlargement of the spleen caused by increased breakdown of red blood cells.
Diagnosis
G6PD deficiency is diagnosed through clinical evaluation, laboratory tests, and genetic testing. Diagnostic steps may include:
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Measurement of G6PD enzyme activity in red blood cells, which may be reduced during acute hemolysis.
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A peripheral blood smear involves examining a blood sample under a microscope to determine the appearance and morphology of red blood cells.
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Testing for mutations associated with the G6PD gene can confirm the diagnosis and determine the severity of the condition.
Treatment
Treatment options for G6PD deficiency include avoiding triggers that can trigger hemolysis and managing symptoms during acute episodes.
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Trigger avoidance: Avoiding medications, foods, or substances known to cause oxidative stress and trigger hemolytic episodes, such as antibiotics, antimalarials, and fava beans.
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Provide supportive care to manage hemolysis symptoms, such as rest, hydration, and pain management.
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In severe cases of hemolysis or anemia, blood transfusion may be necessary to replenish red blood cells.
Prevention
The prevention of complications associated with G6PD deficiency involves educating individuals about the condition and avoiding known hemolysis triggers.
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It is important to advise individuals with G6PD deficiency that medications that can trigger hemolysis should be avoided unless absolutely necessary.
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Advise individuals to avoid foods known to trigger hemolysis, such as fava beans, and to maintain a balanced diet rich in nutrients.
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Providing genetic counseling and testing to individuals with a family history of G6PD deficiency to assess their risk of inheriting the condition and to discuss their reproductive options.
Conclusion
G6PD deficiency is a genetic disorder characterized by a deficiency of the enzyme glucose 6 phosphate dehydrogenase, resulting in increased oxidative damage and hemolysis. There are many symptoms of the deficiency, which may be triggered by medications, infections, or foods. Clinical evaluations, laboratory tests, and genetic tests are used to diagnose the disorder. Treatment involves avoiding triggers of hemolysis and managing symptoms during acute episodes. Medication management, dietary modifications, and genetic counseling are some of the prevention strategies.
