G6PD deficiency in children: What you should know

Have you heard of Glucose-6-phosphate dehydrogenase, or G6PD deficiency? It is the most common enzyme deficiency in humans, affecting 400 million people worldwide. Further, it is a genetic condition and almost always affects males of Asian, African or Middle Eastern backgrounds. 

G6PD Deficiency: What you should know

What is G6PD Deficiency? 

G6PD is an enzyme (protein) in the body that assists the function of red blood cells. G6PD deficiency is when there is not enough G6PD in the body. It is a hereditary condition which means that children born with it had it passed down from one or both of the parents. It occurs because of a mutation to the X chromosome. 

What exactly does G6PD do? 

In particular, G6PD is the enzyme responsible for keeping red blood cells healthy and functioning well, so that they can live a normal “lifespan”. However, without adequate G6PD in the body, red blood cell function weakens, and they can “die” prematurely. 

When red blood cells break down early like this, it is known as hemolysis. And when this happens persistently, it can result in a condition known as hemolytic anemia.

What is hemolytic anemia? 

The body works constantly to regenerate red blood cells, and by now you know that one of the main functions of G6PD is to assist with this.

Hemolytic anemia develops when red blood cells die faster than the body can replace them. Following this, there is less oxygen flow around the body. 

Things that can trigger hemolytic anemia in children with G6PD deficiency are: 

• Certain bacterial and viral infections 
• Aspirin
• Some pain and fever relieving medications in the nonsteroidal anti-inflammatory (NSAID) category 
• Antimalarial drugs 
• Sulfonamides, used to treat various infections
• Fava beans (broad beans) 
• Naphthalene, which is found in mothballs

Jaundice in newborns could indicate g6pd deficiency. Phototherapy is often used to treat the jaundice.

Signs and Symptoms of G6PD deficiency

Most children with G6PD deficiency won’t show any signs of it. But, symptoms can be triggered by the medications and foods mentioned above. 

These include: 

• Dark-coloured urine 
• Jaundice, or yellowing of the skin and whites of eyes
• Fever
• Paleness 
• Dizzyness
• Extreme tiredness
• Rapid heart beat 
• Shortness of breath
• An enlarged spleen

The good news is that symptoms will generally go away as the red blood cells renew themselves.

Diagnosis

G6PD deficiency in a child generally isn’t diagnosed until symptoms emerge. When they do, doctors will confirm the diagnosis through a simple blood test. Other tests that may be conducted to measure the amount of red blood cells in the body are: a serum hemoglobin test, a reticulocyte count and a complete blood count. 

If a newborn baby has jaundice that is not improving, then a G6PD test might be conducted to rule out a deficiency of the enzyme. This could any one, or a combination, of the blood tests mentioned above.

A G6PD deficiency diagnosis in your baby needn’t stress you out. As you now know, it can be managed efficiently.

Treatment and prevention of G6PD deficiency

Mums and dads, familiarise yourself with the list of triggers we mentioned above. This is because treatment and prevention of G6PD deficiency is as simple as eliminating these medications and foods from your child’s life. 

However, if a child has severe anemia, then he may need a stay in hospital to receive fluids and oxygen, as well as a blood transfusion. It is highly likely he will have to stay on in hospital until he has fully recovered. 

Also, if your newborn is confirmed to have G6PD deficiency (indicated through the jaundice), the treatment will likely involve phototherapy to lower the amount of bilirubin in the blood.

Too much bilirubin — caused by destruction of the red blood cells —  is what causes newborn jaundice. Phototherapy will help break down this bilirubin in the blood. 

Mums, you should avoid eating fava beans for as long as you breastfeed your child, as well as avoid taking the medications mentioned previously, that act as triggers for hemolytic anemia. 

In summary, parents, G6PD deficiency is not a condition to panic too much about. You just need to prevent its triggers, and be in regular discussion with your child’s paediatrician over any concerns about the condition. 

Also read: Health checks and screening tests for your newborn

References: Genetics Home Reference, Medscape, National University Hospital Singapore