Did you know that G6PD deficiency is a genetic condition that affects about 1 in 10 African American boys in the US?
G6PD deficiency affects red blood cells, leading to hemolytic anemia, which is the most severe condition. It occurs when the body cannot replace RBCs as quickly as they’re destroyed. Let’s explore G6PD deficiency in detail.
What is G6PD?
G6PD stands for Glucose-6-Phosphate Dehydrogenase. This enzyme is found in the red blood cells and helps them break down glucose. When exposed to certain medications, foods, or diseases, it helps to protect the red blood cells from hemolysis (the breaking up of red blood cells) and other complications.
It is possible to have a G6PD shortage if the enzyme’s activity in the red blood cells is significantly reduced.
G6PD Deficiency Occurs – How many occurrences are there?
G6PD Deficiency is found in the following numbers per year –
Widespreadon (over 10 million occurrences)
Common Age Group
G6PD Deficiency can occur at any age.
Common Gender Group
Any gender can have G6PD Deficiency.
G6PD Deficiency Risk Factors
Factors that may raise the risk of G6PD Deficiency include-
bacterial or viral infection-related stress.
fava bean consumption
Usage of drugs derived from quinine have a family history
These risk factors do not guarantee that you will develop G6PD deficiency.
Causes Of G6PD Deficiency
G6PD deficiency is inherited from one or both parents
Men have a higher risk of being affected as they only have one X chromosome
Women with both copies of the G6PD gene mutated may be affected, but those with one mutation may also exhibit symptoms
What are the Symptoms of G6PD Deficiency?
Symptoms of G6PD deficiency can range from mild to severe.
Common symptoms include fatigue, pale skin, shortness of breath, and rapid heartbeat.
Other symptoms can include dark urine, yellowing of the skin and eyes, abdominal pain, and fever.
In severe cases, hemolysis (breakdown of red blood cells) can lead to jaundice, anemia, and potentially life-threatening complications.
The following are signs and symptoms of hemolysis-
Anemia (low red blood cell count) causes a pale complexion, resulting in –
lethargic or tiredness
swiftestst heart ratest (palpitations)
dizziness
discomfort in the chest
Breathing problems
Due to hemolysis –
Urine has a tea-colored tint
jaundice (yellowness of skin and white part of the eyes).
In this case, seek emergency medical attention. G6PD insufficiency is a chronic disorder that lasts a lifetime.
However, even though there is no cure, there are no harmful impacts on children’s growth or development, nor is there any medicine available to reverse the condition.** **
Complications Of G6PD Deficiency
G6PD deficiency can cause severe anemia (favism) if fava beans are consumed.
Children are more susceptible to favism than adults.
Favism symptoms include fever, irritability, diarrhea, dark urine, and yellowing of the skin.
G6PD deficiency is always present in favism patients, but not everyone with G6PD deficiency will react to fava beans.
Beutler fluorescent spot test: detects G6PD-produced NADPH using ultraviolet light
Doctor’s inquiry: information on diet and medications to determine symptoms’ cause.
What Is The Treatment For G6PD Deficiency?
Avoiding triggers is the primary treatment for G6PD deficiency in babies
Anemia may require treatment such as blood transfusions
Jaundice in babies can be treated with ‘bili lamps’ or exchange transfusions in severe cases
Inform your doctor about your baby medical history before starting any new medications
Seek immediate medical attention for infections, as they can cause hemolysis in patients with G6PD deficiency.
What Happens Following A G6PD Test?
Following your G6PD test, your doctor will review the results with you.
A hereditary disorder causes G6PD deficiency. No treatment exists for this condition. However, avoiding specific triggers will help you avoid hemolytic episodes and anemic symptoms.
An episode of hemolysis caused by a G6PD deficiency has the following triggers-
savoring the flavor of fava bean
sulfa-based medications
moth repellents and toilet bowl deodorizers include the chemical naphthalene.
Take aspirin (Bayer) and other NSAIDs, such as ibuprofen, as possible triggers for this condition (Advil).
Your doctor will inform you of any other substances you should avoid due to the potential for adverse effects. To name a few, there are-
methylene bluish
nitrofurantoin (Macrobid, Macrodantin), a drug used to treat urinary tract infections (UTIs)
phenacetin, a pain reliever.
anti-malarial medication primaquine
quercetin, a widely used supplement component
A-List Of Medications And Other Precautions To Keep In Mind
To avoid hemolysis, people with a G6PD deficiency should avoid certain drugs and other substances.
G6PD deficient babies should continue to be breastfed, but mothers should avoid taking drugs or substances because minute levels may be present in breast milk.
Hemolysis can be caused by infection as well.
Having a G6PD deficiency can lead to excessive hemolysis in the body, so it’s important to tell your doctor if you or your children have it.
Medications that can be administered therapeutically but should be avoided in the diet and herbal remedies–
Fava beans
Traditional Chinese Medicine such as Chin lin, San Chi, 13 herbs, & 12 herbs
Other traditional remedies (ask your doctor)
Things to avoid, such as Mothballs & Pyrethrum-laced mosquito coils.
Is there a way to prevent G6PD Deficiency?
Yes, by avoiding drugs and foods that promote hemolysis and getting vaccinated against common diseases.
What to do as a parent to a child’s G6PD deficiency?
Limit the child’s exposure to triggers, and consider joining a support group for information and resources.
Summary
G6PD deficiency is a lifelong but manageable genetic condition. While a diagnosis can feel worrying for parents, the key to a healthy life for your child is avoiding specific triggers like certain foods and medicines. You don't have to navigate this alone. Babynama's pediatric care plans provide you with 24/7 instant access to expert pediatricians who can offer reassurance, answer your questions, and guide you on safely managing your child's condition.
