Has your baby been diagnosed with G6PD deficiency? Here's what you should know about it.
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.
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 enzyme 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 anaemia.
What is hemolytic anaemia?
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 anaemia 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 anaemia 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
G6PD Deficiency In Newborn
At birth, infants with G6PD deficiencies seem healthy. They could develop infant hemolysis and neonatal jaundice. This could be fatal or seriously harm their nervous systems. Infants with G6PD deficiency often undergo normal growth and development, barring such severe difficulties during the newborn period.
What Causes G6PD Deficiency In Newborns?
Acute hemolytic anaemia can be brought on by exposure to specific antimalarial medications and sulfonamides, infection stress (such as upper respiratory or GI infections), environmental contaminants (such as moth balls), and specific foods (such as fava beans), all of which affect the patient's capacity to handle oxidative reactions.
Either primary DNA testing or enzyme analysis can be used to screen newborns for G6PD deficiency. For the diagnosis of G6PD deficiency, confirmatory testing utilising a quantitative assay should be carried out.
Types of G6PD Deficiency
Depending on how active the G6PD enzyme is in your body, there are five different types of G6PD deficiencies.
- Class 1: Chronic hemolytic anaemia is characterised by less than 10% G6PD enzyme activity. This means that red blood cells are depleted more quickly than they are replaced.
- Class 2: Red blood cell destruction is caused by 10% or less G6PD enzyme activity and only occurs when you are exposed to trigger foods, drugs, or diseases.
- Class 3: 10–60% G6PD enzyme activity, and infections are the only cause of symptoms.
- Class 4: a G6PD enzyme activity of greater than 60%, despite few symptoms.
- Class 5: People who have this disorder frequently have no symptoms and are unaware that they have it since they have higher G6PD enzyme activity than healthy persons.
Clinically important classes range from 1 to 3. This indicates that exposure to triggers increases the likelihood of hemolytic anaemia, which frequently necessitates medical attention and treatment.
G6PD Deficiency Symptoms
To restore the antioxidant glutathione, G6PD is required. Because of this, a shortage in the enzyme can decrease immunity and increase the risk of infections and non-nutritional anaemia.
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
- Dizziness
- Extreme tiredness
- Rapid heartbeat
- Shortness of breath
- An enlarged spleen
The good news is that symptoms will generally go away as the red blood cells renew themselves.
How to Diagnose G6PD Deficiency
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.
It is not a guarantee that you have lymphoma if you have a lactate dehydrogenase (LDH) test for indicators of blood malignancy lymphoma. Other tests they might conduct consist of:
- Complete blood count (CBC): CBCs aid medical professionals in the recognition and diagnosis of illnesses.
- Bilirubin levels: This is a blood test.
- Reticulocyte count: To determine if your bone marrow is creating enough red blood cells, a blood test called a reticulocyte count counts your young blood cells.
- Serum aminotransferases: This test evaluates a liver enzyme.
- Peripheral blood smear: In this blood test, the number, kind, shape, and size of blood cells are examined for alterations.
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 be any one, or a combination, of the blood tests mentioned above.
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 are as simple as eliminating these medications and foods from your child's life.
However, if a child has severe anaemia, 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 in the hospital until he has fully recovered.
G6PD Deficiency In Newborn Treatment
Eliminating the trigger is frequently sufficient to treat the symptoms of G6PD insufficiency. Frequently, this entails eradicating the drug use or treating the infection. A child with severe anaemia may require hospitalisation for treatment in order to receive oxygen and water. A child may occasionally require a transfusion of healthy blood cells.
Also, if your newborn is confirmed to have G6PD deficiency (indicated through jaundice), the treatment will likely involve phototherapy to lower the amount of bilirubin in the blood.
Too much bilirubin -- caused by the destruction of the red blood cells -- is what causes newborn jaundice. Phototherapy will help break down this bilirubin in the blood.
G6PD Deficiency Diet
As long as they stay away from the previously mentioned potential triggers, people with G6PD can lead the same kind of diet and lifestyle as people without the condition.
People who have G6PD and those who do not may wish to concentrate on eating foods high in antioxidants that prevent oxidative damage, safeguard red blood cells, and promote health. Examples of high-antioxidant foods are cinnamon, ginger, passion fruit, and dark chocolate, among many others
Interestingly, recent studies suggest that there is a relationship between vitamin D levels, G6PD deficiency, and the severity of infections like COVID-19.
G6PD deficiency prevents the body from producing enough glutathione, which is needed to keep levels of vitamin D in check.
Your immune system is regulated by vitamin D enhancing the release of anti-inflammatory substances.
Therefore, individuals with G6PD deficiency benefit from consuming more vitamin D because they are at an elevated risk of vitamin D shortage and impaired immune function.
Foods high in vitamin D include:
- Fish: sardines, trout, salmon, and fish liver oil
- Shiitake mushrooms that have been dried and UV-treated
- Animal products: egg yolks and beef liver
- Fortified beverages, such as chocolate milk and orange juice
- Dairy: cheese, yoghurt, and cow's milk
- Fortified plant-based milk, such as rice, soy, and almond milk
Those who lack G6PD may also benefit from Premna integrifolia Linn's medicinal plant's alcoholic extract. Animal studies show that this extract boosted glutathione levels and decreased inflammatory markers in rats on a high-fat diet.
Similarly, research suggests that L-cysteine, a precursor to glutathione, may aid in the replenishment of glutathione in G6PD cells.
However, further research—especially in humans—is required to establish whether supplements might help those with. the circumstance.
G6PD Deficiency Foods To Avoid
Mums, you should avoid eating fava beans for as long as you breastfeed your child, and avoid taking the medications mentioned previously, that act as triggers for hemolytic anaemia.
Fava beans shouldn't be given to your child. Red wine, all beans, blueberries, soy products, tonic water, and camphor should all be avoided by people who have G6PD.
33% of people with G6PD deficiency have been reported to develop hemolytic anaemia after consuming fava beans.
In addition, a 5-year study of 1,000 individuals with G6PD deficiency discovered that certain participants' consumption of the following foods led to hemolytic anaemia:
- falafel
- chickpeas
- broad beans
- green peas
- peanuts
- lentils
- black eye peas
G6PD Deficiency Medications To Avoid
Any time persons with G6PD take any medication, whether prescribed by a doctor or over-the-counter, they should tell their doctor or pharmacist that they have G6PD deficiency to be sure that it is safe to take the medication.
The least frequent causes of hemolytic anaemia in people with G6PD are medications.
However, the following are the kinds to stay away from if you have this condition:
- Diclofenac sodium: anti-inflammatory drug
- Ibuprofen: anti-inflammatory drug
- Acetylsalicylic acid (aspirin): anti-inflammatory drug
- Co-trimoxazole (sulfa drug): antibiotic drug
- Nitrofurantoin: antimicrobial drug
- Dapsone (sulfa drug): antibiotic drug
- Methylene blue: antimicrobial drug
- Primaquine: antimicrobial drug
- Phenazopyridine: analgesic (pain reliever) drug
- Rasburicase: gout medication
- Acalypha indica: traditional herbal remedy
- Coptis chinesis: traditional herbal remedy
Substances to avoid
Additionally, substances used for tattoos and in laboratories may cause G6PD symptoms like:
- Henna, a plant-based colour occasionally used for body art
- Mothballs contain naphthalene.
- A dye used in several laboratory examinations is toluidine blue.
Only the names of medications that are more likely to result in hemolysis in people with G6PD deficiency are included in this list. Later, the list might be updated.
There are situations when medications not on this list can also be problematic. Inform your child's doctor, nurse, and pharmacist about their G6PD deficiency and request that they examine your child before giving them any medications, including herbal medicines.
Your child will undergo blood testing while taking the medication if the doctor considers that your child needs to take one of the medications on the list.
Haemolysis risk and severity are almost invariably dose-related. As a result, your child is more likely to get severe hemolysis if they take a greater dose of one of these medications.
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 discussions with your child's paediatrician over any concerns about the condition.
For more information on how you can choose a healthy lifestyle for your baby and the whole family, visit https://babypass.health/
Updates from Matt Doctor
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