Newborn Screening for g6pd deficiency – What you should know

Having a baby is one of the happiest moments of a parent’s life. This joyous day also comes with some critical tests to determine if your child is clear of certain health conditions. These tests are known as Newborn Screening (NBS) tests and can make a huge difference in the health and well-being of your child.

Here’s a guide to understanding this genetic condition and the screening process can help you ensure the well-being of your newborns.

MEDICAL DISCLAIMER: The information included in this material is for informational purposes only. Always seek medical advice for any concerns about health and nutrition.

What is Newborn screening (NBS)?

The Newborn Screening (NBS) is a series of tests that detect any developmental, genetic, and metabolic disorders in a newborn baby. In addition to hearing and heart screening tests, a blood test will be done to check for several disorders, including:

  • Organic Acid Disorders
  • Endocrine Disorders
  • Fatty Acid Oxidation Disorder
  • Hemoglobinopathies
  • Urea Cycle Defect
  • Amino Acid Disorders

Some of these disorders are treatable; however, others, like glucose-6-phosphate dehydrogenase (G6PD) deficiency, are genetic. G6PD deficiency has no known cure but with enough information, it is manageable and children with this condition can still lead normal and healthy lives.

What is G6PD deficiency?

G6PD deficiency is the lack of glucose-6-phosphate dehydrogenase enzyme, which hastens the body’s chemical reactions when exposed to triggers. Without it, the red blood cells are easily destroyed, which can lead to anemia and cause paleness, dizziness, headaches, dark-colored urine, and abdominal or back pain. 

Babies with inherent health conditions usually appear normal at birth; however, Newborn Screening (NBS) can detect these conditions even before symptoms appear. This is why it’s strongly suggested that parents have their newborn babies screened so early intervention can be given to prevent future health complications. 

To learn more about G6PD deficiency, click this article Helpful tips for the management of G6pd deficiency.

How does Newborn Screening work for G6PD deficiency?

Newborn screening is essential for the early detection of G6PD deficiency so that appropriate precautions can be taken to prevent hemolytic crises.

Here's how newborn screening for G6PD deficiency typically works:

  • Blood sample collection: Shortly after birth, a small blood sample is usually taken from the baby's heel. This sample is collected on a special piece of filter paper and is referred to as a dried blood spot.
  • Laboratory testing: The dried blood spot sample is sent to a laboratory for analysis. In the lab, the sample is tested for the activity level of the G6PD enzyme. 

It's important to note that newborn screening for G6PD deficiency may vary by location, and the specific methods used for testing may differ.

What happens if my baby tests positive for G6pd?

When newborn tests are positive for G6PD deficiency, it indicates that the baby has this genetic condition, which can affect the function of their red blood cells. G6PD deficiency may lead to hemolytic anemia triggered by specific substances. 

Following a positive screening result, doctors will confirm the diagnosis through additional testing. Parents are then educated about G6PD deficiency, its implications, and the importance of avoiding triggers like certain foods, medications, and infections that can cause red blood cell breakdown. 

Regular monitoring is recommended, and an emergency plan is established in case of hemolytic crises. Medications may be prescribed for crisis management.

Common symptoms of G6PD deficiency

Common symptoms of G6PD deficiency include jaundice (yellowing of the skin and eyes), pale skin, dark urine, fatigue, and in some cases, abdominal pain. The severity of symptoms can vary among individuals with G6PD deficiency.

Explore our comprehensive guide on the Signs and symptoms of g6pd deficiency for a deeper understanding of these conditions.

Treatment options for G6PD deficiency

There is no specific cure for G6PD deficiency, as it is a genetic condition. Living with a child who has G6PD deficiency requires a proactive and informed approach to ensure their well-being. Parents should familiarize themselves with the complexities of G6PD deficiency, including its triggers and management strategies. Collaborating closely with a doctor is crucial, as they can provide tailored guidance, monitor the child's health, and offer recommendations specific to their needs.

Despite the challenges, with proper education, medical guidance, and dietary management, children with G6PD deficiency can lead fulfilling and healthy lives.

Here’s a detailed guide on how to manage this genetic condition and ensure a healthy life for your little one. > Helpful tips for the management of G6pd deficiency

Frequently asked questions on newborn screening:

What is G6PD in newborn screening?

What is G6PD in newborn screening?

Newborn screening for G6PD deficiency involves testing a newborn's blood sample to check the activity level of this enzyme. Low G6PD activity can indicate G6PD deficiency, a genetic condition that makes red blood cells more susceptible to breakdown, especially when exposed to certain triggers like specific foods or medications.

When is newborn screening done?

Newborn screening is usually conducted within the first 24 to 48 hours of a baby's life to detect genetic and metabolic conditions early. A small blood sample is collected, typically from the baby's heel, and sent to a laboratory for analysis.

Why is newborn screening important?

Newborn screening is vital because it can identify hidden genetic or metabolic conditions in infants. This early detection can prevent serious health complications, and developmental issues, or even save a baby's life by addressing these conditions in their early stages.

How is newborn screening done in the Philippines?

The basic process of newborn screening in the Philippines is similar to that in many other countries. It involves the collection of a blood sample from a newborn shortly after birth and laboratory testing to screen for various genetic and metabolic conditions. 

However, the specific conditions screened for and the exact testing methods may vary from one country to another based on their respective healthcare systems and guidelines.

References

[1] www.vinmec.com. (n.d.). G6PD deficiency: The disease can be detected by newborn screening. [online] Available at: https://www.vinmec.com/en/tin-tuc/thong-tin-suc-khoe/nhi/g6pd-deficiency-the-disease-can-be-detected-by-newborn-screening/

[2] Blog | Trivitron Healthcare Solutions | Medical Device Company. (2022). Newborn Screening for G6PD Deficiency. [online] Available at: https://www.trivitron.com/blog/newborn-screening-for-g6pd-deficiency/

[3] newbornscreening.hrsa.gov. (n.d.). Glucose-6-phosphate dehydrogenase deficiency | Newborn Screening. [online] Available at: https://newbornscreening.hrsa.gov/conditions/glucose-6-phosphate-dehydrogenase-deficiency#:~:text=Newborn%20screening%20for%20G6PD%20deficiency

[4] Mayo Clinic Laboratories. Newborn Screening Act Sheet Glucose-6-Phosphate Dehydrogenase Deficiency. (n.d.). Available at: https://www.mayocliniclabs.com/-/media/it-mmfiles/Special%20Instructions/D/5/9/Newborn_Screening_Act_Sheet_Glucose%206%20Phosphate_Dehydrogenase_Deficiency

[5] Health Resources & Services Administration (n.d.). Newborn Screening Process | Newborn Screening. [online] Available at: newbornscreening.hrsa.gov/newborn-screening-process 

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