G6PD Deficiency

What is G6PD deficiency?

G6PD deficiency is a common inherited condition in which a person does not have enough of the protein glucose-6-phosphate dehydrogenase (G6PD). This protein helps protect red blood cells from being damaged. Without enough G6PD, red blood cells can break down too easily. Then they cannot carry oxygen from the lungs to other parts of the body. 

Most people with G6PD deficiency have no symptoms but can be at a higher risk for red blood cell breakdown (hemolysis). This is especially true after exposure to certain medicines, foods (fava beans), or infection. A person with G6PD deficiency can develop a condition known as hemolytic anemia. This means that red blood cells are destroyed and removed from the blood sooner than they should be. 

Symptoms of G6PD deficiency

Most people with G6PD deficiency do not have any symptoms. But when symptoms do appear, they cause a person to have:

• Fatigue 
  
• Paleness of the skin or lips
  
• Fast heartbeat
  
• Shortness of breath
  
• Yellow skin and eyes (jaundice)
  
• Back or stomach pain
  
• Dark urine
  

Causes of G6PD deficiency

G6PD deficiency is caused by a change (mutation) in the G6PD gene. This gene provides the body instructions for making the G6PD enzyme. The mutation is inherited or passed down from parents to their children. It is more common for males to be affected and for females to be a carrier of the condition. Because this is a genetic result, G6PD deficiency is a lifelong condition.

G6PD deficiency is one of the most common genetic enzyme deficiencies in the world. It affects about 400 million people worldwide. 

G6PD deficiency is more common in males and in people of African, Mediterranean, or Southeast Asian descent.

Tests for G6PD deficiency

There are 2 ways to test for G6PD deficiency: a blood test that checks for how well the G6PD works (activity) or a blood test that looks for the gene change. Your child may have 1 or both tests. 

Treatment of G6PD deficiency 

If your child has G6PD deficiency, it is important to avoid things that can trigger symptoms. This includes certain medicines or foods. If symptoms do occur, treatment will depend on how severe the symptoms are. 

Patients with G6PD deficiency should avoid:

• Eating fava beans
  
• Contact with moth balls (they can contain an ingredient called napthalene that can cause hemolysis)

There are many medicines that may cause hemolysis, but many people do not have problems when taking them.  Other medicines are more likely to cause hemolysis and should be avoided or used with caution.  

Patients with G6PD deficiency should avoid these medicines:

• Dapsone
  
• Rasburicase
  
• Methylene blue
  
• Pegloticase
  
• Primaquine
  
• Tafenoquine 

Medicines to use with caution with G6PD deficiency include:

• Nitrofurantoin
  
• Sulfamethoxazole

Find more information on high, medium, and low risk medicines for people with G6PD deficiency from the G6PD Deficiency Association. Talk to your care team if you have questions about what medicines are safe for your child.

Prognosis for G6PD deficiency 

Most people with G6PD deficiency can live healthy lives. But they need to avoid certain foods and medicines that cause red blood cell damage. Severe cases are rare and can be more challenging. But with proper care, the prognosis is usually good.

Support for patients with G6PD deficiency 

Support groups and resources are available for people with G6PD deficiency. These groups can help you and your family learn more about the condition and connect with others who have similar experiences.

Your child may also want to wear a medical alert bracelet or carry a wallet pocket card that informs others of this condition. In an emergency, doctors can use this information to help make decisions about medicines.

Find more information

Related content