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What is G6PD Deficiency and How Does It Affect You?
Published: Sep 22, 2023
G6PD deficiency is a genetic condition affecting red blood cells, making them vulnerable to damage. Learn how this common hereditary disorder can impact your health and what you should know about it.
What is G6PD Deficiency?
G6PD deficiency is an inherited disorder caused by a defect in the enzyme glucose-6-phosphate dehydrogenase (G6PD) in red blood cells. This enzyme is crucial for protecting cells from oxidative damage. Without enough G6PD, red blood cells are more likely to break down under oxidative stress, leading to a condition known as hemolytic anemia. G6PD deficiency is the most common enzyme disorder of red blood cells, affecting millions worldwide.
Who is Affected?
G6PD deficiency has a widespread global presence, particularly in regions like Africa, the Middle East, and Asia, where malaria is or was common. It is an X-linked disorder, primarily affecting males, although females can be carriers. In specific populations, such as Kurdish Jews, the prevalence can be as high as 60 to 70 percent. The disorder's geographical distribution suggests a historical advantage against malaria, similar to other red blood cell disorders.
Symptoms and Triggers
Symptoms of G6PD deficiency can range from mild to severe and often depend on the level of oxidative stress. Triggers include certain foods like fava beans, medications such as primaquine, and infections. Symptoms can include jaundice, dark urine, fatigue, and shortness of breath. In severe cases, individuals may experience acute hemolytic anemia, requiring medical attention.
Managing G6PD Deficiency
The primary management strategy for G6PD deficiency is avoiding known triggers. Patients are advised to steer clear of certain drugs and foods that can provoke oxidative stress. In cases of acute hemolysis, treatments may include hydration and possibly blood transfusions. Importantly, individuals should be educated on their condition to prevent episodes.
Frequently Asked Questions
It's a genetic disorder affecting red blood cells, leading to vulnerability to oxidative stress.
Males of African, Middle Eastern, or Asian descent are most commonly affected.
Certain foods, medications, and infections can trigger symptoms.
Yes, women can be carriers and may show symptoms if they have skewed lyonization.
Avoiding triggers and managing symptoms with medical help are key.
Key Takeaways
Understanding and managing G6PD deficiency is crucial for preventing complications.
References
- Glader B. Hereditary hemolytic anemias due to red blood cell enzyme disorders. In: Wintrobe's Clinical Hematology, 13th edition, Wolters Kluwer/Lippincott Williams & Wilkins, Philadelphia 2014.
- Mason PJ, Bautista JM, Gilsanz F. G6PD deficiency: the genotype-phenotype association. Blood Rev 2007; 21:267.
- Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet 2008; 371:64.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic. Always discuss health information with your healthcare provider.
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