G6PD Deficiency

G6PD (Glucose-6-phosphate dehydrogenase) deficiency is a genetic disorder that occurs when there is a deficiency of the enzyme glucose-6-phosphate dehydrogenase, which helps protect red blood cells from damage caused by oxidation.

What is G6PD Deficiency?

G6PD deficiency is a condition where the body does not produce enough of the G6PD enzyme, leading to the premature breakdown of red blood cells. This can cause a range of symptoms, including anemia, jaundice, and fatigue.

Causes of G6PD Deficiency

G6PD deficiency is caused by a mutation in the G6PD gene, which is located on the X chromosome. The condition is inherited in an X-linked recessive pattern, meaning that it is more common in males than females.

Symptoms of G6PD Deficiency

The symptoms of G6PD deficiency can vary from person to person and may include:

• Anemia: a decrease in the number of red blood cells, which can cause fatigue, weakness, and shortness of breath
• Jaundice: a yellowing of the skin and eyes due to a buildup of bilirubin
• Fatigue: feeling tired or weak
• Pale skin: due to a lack of red blood cells
• Dark urine: due to the presence of bilirubin in the urine
• Abdominal pain: due to the breakdown of red blood cells
• Headache: due to a lack of oxygen being delivered to the brain

Triggers for G6PD Deficiency Symptoms

Certain triggers can cause the symptoms of G6PD deficiency to worsen, including:

• Infections: such as pneumonia or urinary tract infections
• Certain medications: such as aspirin, ibuprofen, and certain antibiotics
• Certain foods: such as fava beans, which contain a natural toxin that can trigger the breakdown of red blood cells
• Stress: physical or emotional stress can trigger the symptoms of G6PD deficiency

Treatments for G6PD Deficiency

The treatment for G6PD deficiency depends on the severity of the condition and may include:

• Avoiding triggers: avoiding certain medications, foods, and stressors that can trigger the symptoms of G6PD deficiency
• Rest: getting plenty of rest to help manage fatigue
• Hydration: drinking plenty of fluids to help prevent dehydration
• Blood transfusions: in severe cases, blood transfusions may be necessary to replace damaged red blood cells
• Folic acid supplements: folic acid can help promote the production of new red blood cells
• Vitamin B12 supplements: vitamin B12 can help promote the production of new red blood cells

Complications of G6PD Deficiency

If left untreated, G6PD deficiency can lead to a range of complications, including:

• Anemia: severe anemia can lead to heart problems and other complications
• Jaudice: severe jaundice can lead to kernicterus, a condition that can cause brain damage in newborns
• Infections: people with G6PD deficiency may be more susceptible to infections, which can trigger the symptoms of the condition

Diagnosis of G6PD Deficiency

G6PD deficiency is typically diagnosed through a combination of physical examination, medical history, and laboratory tests, including:

• Complete blood count (CBC): to check for anemia and other abnormalities in the blood
• Reticulocyte count: to check for the presence of immature red blood cells
• Bilirubin test: to check for elevated levels of bilirubin in the blood
• G6PD enzyme assay: to measure the level of G6PD enzyme in the blood