G6PD deficiency is a genetic disorder that results in an inadequate amount of a very important enzyme (protein) called glucose-6-phosphate dehydrogenase (G6PD) in the blood. The enzyme is required for the protection of the red blood cells and the regulation of various biochemical reactions in the body. When G6PD is deficient, red blood cells break down prematurely; this process is called hemolysis. If the red blood cells are destroyed faster than it can be replaced in the body, the hemolysis can eventually lead to hemolytic anemia. Hemolytic anemia results in decreased oxygenation of the body cells, tissues, and organs. Most patients are asymptomatic, unless G6PD deficiency may be triggered following the exposure to triggers, such as infections, medication or food, or infections. G6PD deficiency is most prevalent in Africa and is more common in men.
What causes G6PD deficiency?
G6PD deficiency is a genetic condition that is inherited from one or both parents. The defective gene is linked to the X chromosome, which is one of the two types of sex chromosomes. Men have only one X chromosome whereas women have two X chromosomes. Hence, in males, even one altered gene can cause G6PD deficiency, and females are more likely to be carriers since females must have mutations in both copies of the gene to present with the condition. This is the reason men are more likely to develop the condition than women.
Triggers for G6PD deficiency:
- Antimalarial medications
- Sulfonamides, a medication to treat various infections
- Aspirin, a blood thinner and a medication used to relieve fever, pain, and inflammation
- Nonsteroidal anti-inflammatory medications (NSAIDs) are used to relieve pain and inflammation
Risk factors for G6PD deficiency:
- Being male
- Being African American or of Middle Eastern descent
- Having a family history of G6PD deficiency
What are the symptoms of G6PD deficiency?
Most patients with G6PD deficiency may not have any symptoms. Symptoms may occur following the exposure to triggers, such as infections, medication or food, or infection. The symptoms usually resolve in a few weeks once the underlying cause is treated.
Common symptoms of G6PD deficiency include:
- Increased heart rate
- Shortness of breath
- Dark yellow or orange-colored urine
- Pale skin and eyes
- Jaundice (yellowish discoloration of the skin and white part of the eyes)
- Splenomegaly causing heaviness in the belly
How is G6PD deficiency diagnosed?
The doctor may advise simple blood tests to check G6PD enzyme levels in the blood to diagnose G6PD deficiency.
Other diagnostic tests that may be advised are a complete blood count (CBC), serum hemoglobin levels, and reticulocyte count. These tests can also diagnose hemolytic anemia.
The doctor would also perform a detailed physical examination and ask for your medical history to get information on diet and medication to identify triggers.
How is G6PD deficiency treated?
Treatment for G6PD deficiency involves removing or treating the triggers that may be causing symptoms. If the condition was triggered by an infection, then the underlying infection would need to be treated accordingly with antibiotics or antiviral medications. Any medications that can destroy the red blood cells are usually discontinued. This can lead to a recovery in most cases. Once G6PD deficiency has progressed to hemolytic anemia, the treatment is more aggressive. Treatment involves oxygen therapy, blood transfusion, and close monitoring.
What is the prognosis of G6PD deficiency?
Many people with G6PD deficiency never have any symptoms and live a normal life. In most cases, the patients completely recover from the symptoms when treated appropriately and the triggers are avoided (if possible). Avoiding triggers such as triggering foods and medication can prevent symptoms from developing.
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