What Is G6PD Deficiency?

G6PD deficiency is a genetic disorder where the body lacks enough of an enzyme called glucose-6-phosphate dehydrogenase. This enzyme helps red blood cells function properly and protects them from certain harmful substances. Without enough G6PD, red blood cells can break down too quickly—a condition known as hemolytic anemia. It is more common in males and people of African, Middle Eastern, or South Asian descent.

What Causes G6PD Deficiency?

G6PD deficiency is caused by a mutation in the G6PD gene, which is located on the X chromosome. Since males have only one X chromosome, they are more likely to be affected.

The condition is inherited, meaning it’s passed down from parent to child. It doesn’t usually cause problems unless the person is exposed to certain triggers that stress red blood cells.

What Triggers a G6PD Reaction?

People with G6PD deficiency can develop symptoms when exposed to:

• Certain medications (e.g., sulfa drugs, aspirin, some antibiotics)
• Foods like fava beans
• Infections
• Naphthalene (found in mothballs)
• Certain chemicals or substances
• Extreme physical stress

Symptoms of G6PD Deficiency

Many people with G6PD deficiency have no symptoms. However, when red blood cells break down rapidly (hemolytic episode), symptoms may include:

• Fatigue
• Pale skin or jaundice (yellowing of skin and eyes)
• Dark-colored urine
• Rapid heartbeat
• Shortness of breath
• Enlarged spleen (in some cases)

Symptoms often appear suddenly after exposure to a trigger.

How Is G6PD Deficiency Diagnosed?

Diagnosis involves:

• Blood tests – To check enzyme levels and red blood cell health
• Complete blood count (CBC) – To detect anemia
• Reticulocyte count – To measure new red blood cells
• Genetic testing – In some cases, to confirm the gene mutation

Testing is usually done if there’s a family history or unexplained anemia.

Treatment and Management of G6PD Deficiency

There is no cure for G6PD deficiency, but symptoms can be managed by:

• Avoiding known triggers – This is the most important step
• Treating infections promptly
• Managing symptoms during a hemolytic episode – Such as hydration, rest, and in severe cases, blood transfusions

Most individuals live healthy lives without frequent issues by being careful with triggers.

Complications of G6PD Deficiency

While many people have mild symptoms, complications can occur:

• Severe anemia – Leading to weakness and fatigue
• Jaundice in newborns – May require phototherapy
• Kernicterus – A rare but serious brain damage from untreated jaundice in babies
• Gallstones – From breakdown of red blood cells

Can G6PD Deficiency Be Prevented?

Since it is a genetic condition, G6PD deficiency cannot be prevented. However, symptoms and complications can be avoided by:

• Knowing and avoiding trigger foods and medications
• Wearing a medical alert bracelet
• Informing healthcare providers before taking any new medication
• Getting screened if there’s a family history

Who Is at Risk?

• Males (due to X-linked inheritance)
• People of African, Middle Eastern, Mediterranean, and South Asian descent
• Newborns with a family history of the condition
• Individuals exposed to certain environmental or medicinal triggers

Living with G6PD Deficiency

Most people with G6PD deficiency lead normal, healthy lives. Key lifestyle tips include:

• Reading labels on medications and food
• Avoiding fava beans and mothballs
• Keeping vaccinations up to date to avoid infections
• Having regular medical checkups
• Educating family members and schools or employers about the condition if necessary