Definition

What is G6PD deficiency?

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection.

How common is G6PD deficiency?

An estimated 400 million people worldwide have glucose-6-phosphate dehydrogenase deficiency. This condition occurs most frequently in certain parts of Africa, Asia, the Mediterranean, and the Middle East. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of G6PD deficiency?

The common symptoms of G6PD deficiency are:

Rapid heart rate
Shortness of breath
Urine that is dark or yellow-orange
Fever
Fatigue
Dizziness
Paleness
Jaundice, or yellowing of the skin and whites of the eyes

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes G6PD deficiency?

G6PD deficiency is a genetic condition that it is passed along from one or both parents to their child. The defective gene that causes this deficiency is on the X chromosome, which is one of the two sex chromosomes. Men have only one X chromosome, while women have two X chromosomes. In males, one altered copy of the gene is enough to cause G6PD deficiency. In females, however, a mutation would have to occur in both copies of the gene. Since it is unlikely for females to have two altered copies of this gene, males are affected by G6PD deficiency much more frequently than females.

Risk factors

What increases my risk for G6PD deficiency?

There are many risk factors for G6PD deficiency, such as:

Being male
Being African-American
Being of Middle Eastern descent
A family history of the condition

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is G6PD deficiency diagnosed?

Your doctor can diagnose G6PD deficiency by performing a simple blood test to check G6PD enzyme levels. Other diagnostic tests that may be done include a complete blood count, serum hemoglobin test, and a reticulocyte count. All these tests measure the amount of red blood cells in the body. They can also help your doctor to diagnose hemolytic anemia.

During your appointment, it’s important to tell your doctor about your diet and any medications you’re currently taking. These details can help your doctor with the diagnosis.

How is G6PD deficiency treated?

Treatment for G6PD deficiency consists of removing the trigger that is causing symptoms. If the condition was triggered by an infection, then the underlying infection is treated accordingly. Any current medications that may be destroying red blood cells are also discontinued. In these cases, most people can recover from the condition on their own.

Once G6PD deficiency has progressed to hemolytic anemia, however, more aggressive treatment may be required. This usually includes oxygen therapy and a blood transfusion to replenish oxygen and red blood cell levels. You will need to stay in the hospital while receiving these treatments, as close monitoring of severe hemolytic anemia is critical for ensuring a full recovery without complications.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage G6PD deficiency?

The following lifestyles and home remedies might help you cope with G6PD deficiency:

Learn how you can manage the condition and symptoms from developing.
Avoid foods and medications that can trigger the condition.
Reducing stress levels can also help in controlling symptoms. Ask your doctor for a printed list of medications and foods that you should avoid.

If you have any questions, please consult with your doctor to better understand the best solution for you.