G6PD Deficiency: An Overview

What is G6PD Deficiency?
G6PD, an acronym hard to remember and easy to jumble up, stands for Glucose-6-Phosphate Dehydrogenase. This is an enzyme all humans are born with. It protects red blood cells from many harmful by-products the body may create when the body consumes certain foods or medications, thus allowing them to function normally. It also helps processes the conversion of carbohydrates into energy.  

To go back to our long forgotten high school biology lessons, an enzyme is a protein that catalyzes, or controls the rate of chemical reactions. Therefore a deficiency in the G6PD enzyme means that our red blood cells are not creating enough of it, or that we can not process the G6PD created by our bodies.  

This disorder is inherited via the X-Chromosone passed from either or both parents. As with all other X-linked conditions, this occurs much more often in males. An estimated 400 million people are affected by this, and there are a possible 400 different types of this infirmity. Although most common in people of African and Mediterranean heritage, South East Asia has also been noted as a region of regular occurrence.  


A manageable disorder but with possible complications
Before you start panicking, G6PD Deficiency, though not curable, is a highly manageable disorder.  Children may live long and healthy lives as long as certain medical and dietary restrictions among other conditions are met.

However, if left untreated and ignored, it may result into a condition called hemolytic anemia, where red blood cells are destroyed and the body can not create enough on time to replace them.  This can lead to jaundice, fatigue, and high heart rates, which can ultimately lead to more severe diseases and in some cases, even death.
 

How do babies and pregnant women become G6PD deficient?
According to Dr. Judy Ann Uy-de Luna, mother and OB-GYN at St. Luke’s Medical Center in Quezon City:
 
"There is yet no known medical literature regarding how G6PD can be contracted by fetuses and thus pregnant women. There is also no way still to detect this disorder during pregnancy. I strongly advise newborn screening and immediate consultation with a pediatrician.”

And to allay common misconceptions, Dr. Uy-De Luna adds that “There is still no link between eating sweet foods and desserts during gestation, so I advice pregnant women to eat sensible diets."

 

Click here to learn more about what happens when your child tests positive for G6PD deficiency and its symptoms.

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Read on to learn more about what happens when your child tests positive for G6PD deficiency and its symptoms.

 

What happens when your child tests positive for G6PD Deficiency?
Meantime, Dr. Jose Enrique S. Clemente, a Pediatrician from Makati Medical Center and St. Luke’s Taguig (The Fort) has this to say about the state of G6PD deficiency in the Philippines:
 
“Greater awareness is needed since it is included in the panel for newborn screening tests which is done in practically all newborns by the 48th hour of life. If a newborn is tested positive, he is sent to the National Institute of Health for reconfirmation.” He stresses to focus on management, “focus on prevention. Every baby who tests positive is given a complete list of what to avoid to prevent a hemolytic reaction. Parents are primed to tell all health providers who see them that their child has GP6D Deficiency.”
 
Though G6DP Deficiency may present no alarming symptoms, the following should be watched out for:

• Dark colored urine
• Paleness (in darker skinned people, this can be seen in the mouth, lips and tongue)
• Rapid heartbeat
• Rapid Breathing
• Unusual shortness of breath
• Jaundice (yellowing of the skin and eyes, especially in newborns)
• An enlarged spleen

 
A trigger is the most common culprit of this disorder, most notably illnesses of bacterial or viral in nature, some painkillers or fever reducing medications, some antibiotics and anti-malarias. Also, many types of legumes (beans and peas) as well as soy products may provoke reaction. Once exposed to any of the above, a child may begin displaying the aforesaid symptoms.

And although, as said earlier, this may not yet be cured, a person with G6PD may stop exhibiting symptoms as soon as the offending triggers are eliminated or resolved, typically within three weeks.  More severe anemic cases should receive hospital treatment. Transfusions, fluid replacement and oxygen are of essence.

 

Click here to learn more about food and drugs a G6PD deficient patient should avoid.

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Read on to learn more about food and drugs a G6PD deficient patient should avoid.

 

Although they may vary from case to case, a full workup with a pediatrician is of essence.  Generally however, the professionals at GP6D.org maintain that the following should be avoided:

 

DRUGS TO AVOID

• NSAIDS (Asprin, Ibuprophen)
• Tylenol (Paracetamol here, Acetaminophen in other countries)
• Quinolones (Antibiotics)
• Drugs metabolized through the liver or known to cause blood or liver related problems or hemolysis
• Sulfa drugs
• Petrochemically derived substances (This is a long list and gets longer every year. Many artificial foods, dyes and vitamins are included in this list.)
• Moth Balls and anything containing naphthalene.
• Artificial Food Coloring (Methylene and Toluidine blue)

 

FOODS TO AVOID

1. Fava Beans and other legumes
2. Sulfites (check labels and ingredients, this is often added to dried fruit, chips, and is naturally occurring in wine)
3. Menthol (think toothpaste and candy)
4. Artificial Blue food coloring
5. Ascorbic Acid (check with your doctor for dosage tolerance, and be aware that many foods and drinks contain this)
6. Vitamin K
7. Tonic Wayer
8. Bitter Gourd (Ampalaya)
9. Some Chinese Herbs (particularly Rhizoma Coptidis (huang lien), Calculus Bovis (neu huang), Flos Chimonanthi Praecocis (leh mei hua), Flos Lonicerae (kam ngan fa) and Margarita or anything containing them.)

 

Click here to learn more about what parents can do when their child is G6PD deficient.

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Read on to learn more about what parents can do when their child is G6PD deficient.

Parents’ Best Defense against G6PD Deficiency:
The best way to get around a G6PD Deficiency is screening and blood testing to test for it, and rule out other causes of anemia if noted. Also, pre-emptive measures are always excellent, especially when one has a family history of this disorder or anemia, just to be sure.
 
Limiting a child with G6PD Deficiency to the triggers, and speaking with a physician about them and how he or she may help identify them are the only ways, albeit simple ones, to allow for a child to live a normal active lifestyle.
 
It goes without saying, but once you have figured out the causes of this disorder, it would be of great value to discuss them thoroughly once your child is able to understand, as well as notify school authorities, families and house help about the triggers.  
 
As always with most manageable disorders, pre-emptive strategies and awareness are of tremendous value, which will allow for peace of mind, and a sound body for both you and your child.