G6PD deficiency is one of the most frequently occurring gene-related disorders of red blood cells, but few realize they have it, until they become symptomatic. Whether you’re a parent worried about a young child, a caregiver or someone with a family history of the disease, let this guide take you through everything you need to know about symptoms, diagnosis, treatment and prevention.
What Is G6PD Deficiency?
G6PD is an important enzyme, which is necessary for the body to function red blood cells. In people with G6PD deficiency, the enzyme is absent or doesn’t work properly, their red blood cells become more susceptible to breaking down — a phenomenon known as hemolysis.
It’s an inherited condition that’s also more frequent in boys. Disproportionately, it harms people of African, Middle Eastern, South Asian and Mediterranean descent. While most people with G6PD deficiency have a normal a normal life, some things can trigger sudden episodes of hemolysis that may need medical attention.
G6PD Deficiency Symptoms
Many people remain asymptomatic, but certain triggers like infections, certain foods like fava beans, and medications including some antibiotics and anti-malarials) develop common symptoms such as:
- Skin that is pale or has a yellow tone (jaundice)
- Feeling overwhelmingly fatigued
- Weakness all over your body
- Dark-colored urine
- Rapid heartbeat
- Shortness of breath
- Enlarged spleen
These are symptoms of a decrease in normal red blood cells, and can progress to a condition called a hemolytic crisis.
Signs of a Hemolytic Crisis
A hemolytic crisis is defined as a sudden and massive destruction of erythrocytes and many doctors will react to this type of crisis as a medical emergency. This can be caused by infections, medication, and sometimes food.
Symptoms of a hemolytic crisis are:
- Sudden fatigue and weakness
- Marked pallor
- Yellowing (of eyes or skin)
- Dark tea-colored urine
- Breathlessness
- Increased heart rate
- Pain in your abdomen and in the area of your spleen
Seek immediate medical care to help prevent complications, including acute kidney failure or shock.
How Do You Know if You Have G6PD Deficiency?
Diagnosis usually requires a G6PD blood test (anemia test) to determine the level of folate in blood. While G6PD deficiency can sometimes lead to folate deficiency due to increased folate utilization in red blood cells, it’s not the direct cause of G6PD deficiency. Hence, it’s mandatory to undergo a folate check.
Additional tests may include:
- CBC (complete blood count) – to evaluate the health of the red blood cells
- Bilirubin and reticulocyte level – for hemolysis detection
- Peripheral blood smear – for abnormalities of red blood cell morphology
G6PD Deficiency Treatment
G6PD deficiency can’t be cured, but it can be well-controlled by:
- Avoiding known triggers (eg, fava beans, some antibiotics, antimalarials)
- NALT to treat neonatal jaundice
- Exchange transfusion in serious cases
- Blood transfusions as needed
- Timely treatment of infections
- Hydration and rest during episodes
Is There a Way to Prevent G6PD Deficiency?
Because it is inherited, G6PD deficiency can’t be prevented. But you can do something to reduce a risk of getting the complication:
- Know thy triggers and avoid them
- Tell healthcare workers about your situation
- Wear a medical ID bracelet
- Maintain good hygiene to avoid infections
- Teach the family how to manage correctly
Is G6PD Deficiency Dangerous?
Not usually, G6PD deficiency is a condition that is controllable and can be managed with the right kind of care. But, untreated episodes of hemolytic crises or profound infant jaundice can cause serious, life-threatening problems including:
- Acute kidney failure
- Shock
- Brain damage (kernicterus) in newborns.
That’s why detection and awareness are vital.
Can G6PD Deficiency Be Cured?
G6PD is an inherited condition that lasts throughout a person’s life. There is no cure. However, with lifestyle changes and preventative measures, most people can lead perfectly normal lives. To stay healthy, staying aware, avoiding known triggers can be a great help.
Wearing a medical alert bracelet and informing doctors of your condition can also prevent accidental exposure to dangerous drugs or substances.
Living with G6PD Deficiency
A lifelong condition People with G6PD deficiency can live normal lives if they know how to manage it and receive the proper medical attention. The key to successful management is education - learning about your condition, knowing the signs and symptoms of an exacerbation, and learning to steer clear if your known triggers.
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Where to Get Tested for G6PD Deficiency?
Devansh Lab Werks, one of leading diagnostics in the US, determines the status of G6PD deficiency status via anemia profile test as part of its comprehensive pathology services. With trained phlebotomists for at-home sample collection and accurate results delivered, you can access personalized, trustworthy care from the comfort of your home.
Final Thoughts
Being informed about G6PD deficiency can make all the difference. From identifying symptoms early to taking preventive steps, managing this condition is entirely possible with the right tools and support.
Whether it’s for yourself, your child, or a loved one – know the signs, get tested, and take control of your health.