G6PD Deficiency Explained: The Hidden Condition Affecting Millions

Have you ever heard of G6PD deficiency? Probably not! You’re not alone – despite being one of the most common enzyme deficiencies in the world, it’s surprisingly under the radar. Yet, for those who have it, this genetic condition can have a big impact on everyday life, making certain foods, medications and even infections a potential trigger for serious health issues. So, what exactly is G6PD deficiency and why does it matter? Let’s break it down in simple terms – no medical degree required!

Understanding G6PD

First things, first… what is G6PD? G6PD stands for Glucose-6-Phosphate Dehydrogenase and it is an enzyme. Going further back than that – what is an enzyme? Enzymes are a type of protein whose role is to speed up chemical reactions that happen in our bodies. For a more complete definition on the role of enzymes, go here.

The G6PD enzyme’s role, to put it as simply as we can, is essential maintaining red blood cell health. The G6PD enzyme protects red blood cells from damage from harmful substances (free radicals) as they carry oxygen throughout the body. To say they hold a pretty crucial role is an understatement!

What is G6PD deficiency and what causes it?

G6PD deficiency occurs when your body doesn’t have enough of the G6PD enzyme. This deficiency is classed as a genetic condition (or genetic disorder) which is inherited. This means you are born with the condition, it cannot be prevented and it stays with you for life; it cannot be ‘caught’ by being in contact with a person with the condition. G6PD deficiency is a result of a mutation in the G6PD gene, which is located in the X chromosome and can be passed down by either parent.

The X Factor – what’s the inheritance pattern?

Humans have two sex chromosomes, X and Y. Females have two X chromosomes (XX), while males have one X and one Y chromosome (XY).

If a male inherits a faulty G6PD gene on his only X chromosome, he will have G6PD deficiency.

Females have two X chromosomes. If they inherit one faulty G6PD gene, the other normal gene can usually compensate. This makes them a ‘carrier’, meaning they won’t have symptoms but can pass the faulty gene on to their children. If a female inherits two faulty genes, she will have G6PD deficiency.

If you are diagnosed with G6PD deficiency, other family members could have it too (without symptoms or presenting as a carrier).

How common is G6PD deficiency, and who is most at risk?

According to the National Library of Medicine, G6PD deficiency “is the most prevalent enzyme deficiency, with an estimated 400 million people affected worldwide”.

Here’s what else we know:

• The deficiency is more commonly seen in people of African, Asian, Mediterranean and Middle Eastern decent.
• Symptoms tend to be milder in those of African origin and more severe in people of Caucasian origin (John Hopkins Medicine)
• Being linked with the X chromosome makes it more common in males, than females.

What are the symptoms and triggers?

Typically, symptoms don’t present until you as exposed to a ‘trigger’. Exposure to a trigger can cause the destruction of the red blood cells (hemolysis) and severe cases cause acute hemolytic anemia. This is when red blood cells break down faster than the body can replace them. It can be life threatening if left untreated.

Symptoms to look out for:

• Jaundice – the yellowing of skin and whites of the eyes
• Paleness in skin, lips or tongue
• Dark urine
• Fatigue
• Shortness of breath
• Rapid heart rate

If these symptoms come on quickly and severe, seek emergency care immediately – this is known as a homolytic crisis.

Common Triggers

• Some foods (including legumes – particularly fava beans, soybeans, peanuts and peas – and some processed foods with artificial colouring)
• Infections such as hepatitis A and B, typhoid fever and pneumonia
• Certain anti-malaria medication, antibiotics and Nonsteroidal Anti-Inflammatory Drugs (NSAIDS) suchs as aspirin and ibuprofen
• Some chemicals, like those present in mothballs and some cleaning products.
• Excessive alcohol and tobacco consumption and even over-exercising!

Unfortunately, the list is long. The G6PD Deficiency Foundation is an excellent of information on this.

Diagnosing & Treatment Methods

Diagnosing

If you experience any of the previously mentioned symptoms, have an unknown form of anemia or a family history of the condition, you should consider seeking a healthcare professional for testing.
Tests to diagnose G6PD deficiency include:

• A complete blood count (CBC) to check your red blood cell levels
• A peripheral blood smear to check for signs of hemolytic anemia, like red blood cells that are abnormal shapes or sizes
• A bilirubin test to check your levels of bilirubin, a waste product of destroyed red blood cells
• A G6PD test to check your G6PD enzyme levels

Source: Cleveland Clinic

Treatment

There is no ‘treatment’ as such for G6PD deficiency, although there are some promising developments in cell and gene therapy, as shown in this study. The best way to manage the condition is to avoid the triggers.

Treatments for reaction to triggers/symptoms will depend on the situation but can include:

• Phototherapy (light therapy)
• Exchange Transfusion
• Blood Transfusion
• Intravenous fluids

True Story: Blood test at Get A Drip Sevenoaks leads to G6PD Deficiency diagnosis

Samantha is a client of Get A Drip Sevenoaks and below is her experience, in her own words, with G6PD deficiency: 

I became aware of G6PD through having a full blood count performed. I had this carried out because I had all sorts of symptoms like heart palpitations, difficulty breathing, dizziness when standing and severe fatigue where I can not leave the bed. I have a complicated medical history so there are many events that could have triggered G6PD – including sudden acute onset of ulcerative colitis where my colon was removed as an emergency 7 years ago.

My recent blood tests through Get A Drip Sevenoaks revealed I was severely malnourished in many vitamins and minerals as have had the part of my intestine removed that absorbs these. I was in and out of hospital last year for many medical conditions including sudden onset arthritis and the nutritional deficiencies nor the G6PD has ever been picked up on. When I started b12 and vitamin d as-well as other vitamin and mineral drips at Get A Drip Sevenoaks this January I experienced an immediate reduction in the inflammation in my body and it seems many of the conditions that I have been hospitalised for have occurred as a knock-on consequence of malnutrition causing high levels of inflammation.

I would encourage anyone chronically unwell to have a full blood test as I have realised that malnourishment, which can occur from many digestive disorders, can cause a lot of further diseases to emerge. The hospital bloods taken as inpatient apparently do not adequately check for any of this. I have also just recently purchased an armband called ‘Visible‘ which tracks your heart rate variability to give you insight in to how to better pace your energy day to day so that you do not crash. I have not used it yet but have read many encouraging reviews and would suggest anyone with severe or chronic fatigue or post-exertion malaise check this out.

“I would also like to thank the team at Sevenoaks especially Ruth and Stacey who were so caring and committed to discovering the root cause of my symptoms and providing nutritional treatment to support me back to greater health. I was very unwell when I first went there finding it very difficult to stand with huge sores on both sides of my mouth due to nutrient deficiency and their kindness was very much appreciated.”

Support and further information

• Metabolic Support UK
• British Society for Haematology
• Kings College Hospital
• G6PD Deficiency Foundation
• National Human Genome Institute

Blood Tests at Get A Drip Sevenoaks

At Get A Drip Sevenoaks, located within Cryojuvenate, we offer a range of testing methods to help you better understand your health and how your body responds. You’ll receive a personalised report with insights and improvement suggestions.

All blood tests are administered by registered nurses and sent to accredited labs for analysis. A registered GP, employed directly by Get A Drip, will review your results, provide a clear, easy-to-understand report, identify any patterns and offer tailored recommendations based on your medical history.

Get in touch with Get A Drip Sevenoaks:

By email: sevenoaks@getadrip.com

By phone: 01732 449411